Bradley’s Neurology in Clinical Practice

Front Matter
Dedication
Copyright Page
Contents
Foreword
Preface
List of Contributors
Video Table of Contents
Volume 1: Principles of Diagnosis
Part I: Common Neurological Problems
Chapter 1: Diagnosis of Neurological Disease
Chapter Outline
Neurological Interview
Chief Complaint
History of Present Illness
Review of Patient-Specific Information
Review of Systems
History of Previous Illnesses
Family History
Social History
Examination
Neurological Examination
General Physical Examination
Assessment of the Cause of the Patient’s Symptoms
Anatomical Localization
Differential Diagnosis
Laboratory Investigations
Management of Neurological Disorders
Experienced Neurologist’s Approach to the Diagnosis of Common Neurological Problems
Chapter 2: Episodic Impairment of Consciousness
Chapter Outline
Syncope
History and Physical Examination
Causes of Syncope
Cardiac Arrhythmias
Atrioventricular Block
Sinoatrial Block
Paroxysmal Tachycardia
Reflex Cardiac Arrhythmias
Decreased Cardiac Output
Hypovolemia
Hypotension
Cerebrovascular Ischemia
Metabolic Disorders
Miscellaneous Causes of Syncope
Investigations of Patients with Syncope
Seizures
History and Physical Examination
Absence Seizures
Tonic-Clonic Seizures
Complex Partial Seizures
Investigations of Seizures
Psychogenic (Nonepileptic) Seizures
Miscellaneous Causes of Altered Consciousness
References
Chapter 3: Falls and Drop Attacks
Chapter Outline
Drop Attacks with Loss of Consciousness
Syncope
Seizures
Drop Attacks without Loss of Consciousness
Transient Ischemic Attacks
Vertebrobasilar Insufficiency
Anterior Cerebral Artery Ischemia
Third Ventricular and Posterior Fossa Abnormalities
Otolith Crisis
Falls
Neuromuscular Disorders and Myelopathy
Stroke
Other Cerebral or Cerebellar Disorders
Cryptogenic Falls in the Middle-Aged
Aging, Neurodegeneration, and the Neural Substrate of Gait and Balance
Basal Ganglia Disorders
Parkinson Disease.
Progressive Supranuclear Palsy and other Parkinsonian Syndromes.
Aged State
Summary
References
Chapter 4: Delirium
Chapter Outline
Clinical Characteristics
Acute Onset with Fluctuating Course
Cognitive and Related Abnormalities
Attentional Deficits
Confusion or Disorganized Thinking
Altered Level of Consciousness
Perceptual Disturbances
Disturbed Sleep/Wake Cycle
Altered Psychomotor Activity
Disorientation and Memory Impairment
Other Cognitive Deficits
Behavioral and Emotional Abnormalities
Pathophysiology
Diagnosis
Predisposing and Precipitating Factors
Mental Status Examination
Diagnostic Scales and Criteria
Physical Examination
Laboratory Tests
Differential Diagnosis
Common Causes of Delirium
Metabolic Disturbances
Drugs
Infections
Strokes
Epilepsy
Postoperative Causes
Other Neurological Causes
Miscellaneous Causes
Special Problems in Differential Diagnosis
Prevention and Management
Prognosis
References
Chapter 5: Stupor and Coma
Chapter Outline
Definitions
Conditions That May Mimic Coma
Approach to the Patient in Coma
Rapid Initial Examination and Emergency Therapy
Common Presentations
History
General Examination
Blood Pressure Evaluation
Hypotension.
Hypertension.
Heart Rate
Respiration
Temperature
General Appearance
Head and Neck Examination
Eye Examination
Otoscopic Examination
Oral Examination
Integument Examination
Examination of Lymph Nodes
Cardiac Examination
Abdominal Examination
Miscellaneous Examinations
Neurological Examination
State of Consciousness
Respiration
Pupil Size and Reactivity
Ocular Motility
Abnormalities in Resting Position.
Eye Deviation.
Spontaneous Eye Movements.
Reflex Ocular Movements.
Motor System
Coma and Brain Herniation
Differential Diagnosis
Differentiating Toxic-Metabolic Coma from Structural Coma
Differentiating Psychiatric Coma and Pseudocoma from Metabolic or Structural Coma
Helpful Laboratory Studies
Other Useful Studies
Electrocardiography
Neuroradiological Imaging
Electroencephalography
Evoked Potentials
Intracranial Pressure Monitoring
Prognosis
Nontraumatic Coma
Traumatic Coma
Persistent Vegetative State
Brain Death
References
Chapter 6: Brain Death, Vegetative State, and Minimally Conscious States
Chapter Outline
Brain Death
Prolonged Disorders of Consciousness
Vegetative State
Minimally Conscious State
Imaging in Disorders of Consciousness
Decision-making and bioethics
References
Chapter 7: Intellectual and Memory Impairments
Chapter Outline
Neural Basis of Cognition
Cerebral Cortex
Consciousness
Memory
Forms and Stages of Declarative Memory
Formation and Retrieval of Episodic Memories
Amnestic Syndrome
Syndromes of Partial Memory Loss
Transient Amnesia
Other Types of Memory (Nondeclarative or Implicit Memory)
Bedside Tests of Memory and Cognitive Function
References
Chapter 8: Global Developmental Delay and Regression
Chapter Outline
Typical and Atypical Development
Child Development Concepts
Global Developmental Delay
Developmental History
Neurological and Other Medical History
Physical Examination
Diagnostic Testing
Genetic Testing
Neuroimaging
Other Tests
Management
Prognosis
Recurrence Risk
Regression
References
Chapter 9: Behavior and Personality Disturbances
Chapter Outline
Frontosubcortical Circuitry
Assessing Behavior and Personality Disturbances in Patients with Cerebral Dysfunction
Classification of Neurobehavioral Symptoms and Disorders
Assessment of Depression
Assessment of Other Behavioral and Personality Disturbances
Behavior and Personality Disturbances Associated with Cerebral Dysfunction
Alzheimer Disease
Depression
Apathy
Aggression
Psychosis
Frontotemporal Dementia
Behavioral Disruption
Anosognosia
Relationship to Anatomy
Vascular Dementia
Depression
Additional Behavioral and Psychiatric Disorders
Parkinson Disease
Depression
Psychosis
Apathy
Impulse Control Disorders
Neuropsychiatric Effects of Deep Brain Stimulation
Dementia with Lewy Bodies
Psychosis
Huntington Disease
Depression
Suicide
Psychosis
Obsessive-Compulsive Traits
Aggression
Apathy
Tourette Syndrome
Multiple Sclerosis
Depression
Anxiety
Euphoria
Pseudobulbar Affect
Amyotrophic Lateral Sclerosis
Depression
Pseudobulbar Affect
Personality Change
Epilepsy
Depression
Anxiety
Psychosis
Aggression
Stroke
Depression
Pseudobulbar Affect
Aggression
Psychosis
Traumatic Brain Injury
Anosognosia
Depression
Anxiety
Apathy
Personality Change
References
Chapter 10: Depression and Psychosis in Neurological Practice
Chapter Outline
Principles of Differential Diagnosis
Principles of Neuropsychiatric Evaluation
Cognitive-Affective-Behavioral Brain Behavior Relationships
Cortical Networks
Frontosubcortical Networks
Cerebrocerebellar Networks
Biology of Psychosis
Biology of Depression
Clinical Symptoms and Signs Suggesting Neurological Disease
Psychiatric Manifestations of Neurological Disease
Stroke and Cerebral Vascular Disease
Infectious
Human Immunodeficiency Virus
Creutzfeldt–Jakob Disease
Neurosyphilis
Metabolic and Toxic
Thyroid Disease
Wilson Disease
Vitamin B12 and Folic Acid Deficiency
Porphyrias
Drug Abuse
Systemic Lupus Erythematosus
Multiple Sclerosis
Neoplastic
Degenerative
Alzheimer Disease and Mild Cognitive Impairment
Frontotemporal Dementia
Idiopathic Parkinson Disease
Dementia with Lewy Bodies
Huntington Disease
Epilepsy
Traumatic Brain Injury
Depression-Related Cognitive Impairment
Delirium
Catatonia
Treatment Modalities
Electroconvulsive Therapy
Vagus Nerve Stimulation
Repetitive Transcranial Magnetic Stimulation
Psychiatric Neurosurgery or Psychosurgery
Treatment Principles
References
Chapter 11: Limb Apraxias and Related Disorders
Chapter Outline
Historical Perspective
A Model for Praxis
Classification of Limb Apraxias
Ideomotor Apraxia, Parietal Variant
Ideomotor Apraxia, Disconnection Variant
Dissociation Apraxia
Ideational Apraxia
Conceptual Apraxia
Limb-Kinetic Apraxia
Callosal Apraxia
Testing for Limb Apraxias
Testing for Ideomotor Apraxia, Parietal and Disconnection Variants
Testing for Dissociation Apraxia
Testing for Ideational Apraxia
Testing for Conceptual Apraxia
Testing for Limb-Kinetic Apraxia
Testing for Callosal Apraxia
Pathophysiology of Limb Apraxias
Rehabilitation for Limb Apraxias
Related Disorders
Summary
References
Chapter 12: Agnosias
Chapter Outline
Visual Agnosias
Cortical Visual Disturbances
Cortical Visual Distortions
Balint Syndrome and Simultanagnosia
Visual Object Agnosia
Apperceptive Visual Agnosia
Associative Visual Agnosia
Optic Aphasia
Prosopagnosia
Klüver–Bucy Syndrome
Auditory Agnosias
Cortical Deafness
Pure Word Deafness
Auditory Nonverbal Agnosia
Phonagnosia
Amusia
Tactile Agnosias
Tactile Aphasia
Summary
Acknowledgment
References
Chapter 13: Aphasia and Aphasic Syndromes
Chapter Outline
Symptoms and Differential Diagnosis of Disordered Language
Bedside Language Examination
Differential Diagnosis of Aphasic Syndromes
Broca Aphasia
Aphemia
Wernicke Aphasia
Pure Word Deafness
Global Aphasia
Conduction Aphasia
Anomic Aphasia
Transcortical Aphasias
Subcortical Aphasias
Pure Alexia without Agraphia
Alexia with Agraphia
Aphasic Alexia
Agraphia
Language in Right Hemisphere Disorders
Language in Dementing Diseases
Investigation of the Aphasic Patient
Clinical Tests
Differential Diagnosis
Recovery and Rehabilitation of Aphasia
References
Chapter 14: Dysarthria and Apraxia of Speech
Chapter Outline
Motor Speech Disorders
Dysarthrias
Apraxia of Speech
Oral or Buccolingual Apraxia
Aphemia
The “Foreign Accent Syndrome”
Acquired Stuttering
Opercular Syndrome
References
Chapter 15: Neurogenic Dysphagia
Chapter Outline
Normal Swallowing
Neurophysiology of Swallowing
Mechanical Dysphagia
Neuromuscular Dysphagia
Oculopharyngeal Muscular Dystrophy
Myotonic Dystrophy
Other Muscular Dystrophies
Inflammatory Myopathies
Mitochondrial Disorders
Myasthenia Gravis
Neurogenic Dysphagia
Stroke
Multiple Sclerosis
Parkinson Disease
Other Basal Ganglia Disorders
Amyotrophic Lateral Sclerosis
Cranial Neuropathies
Brainstem Processes
Cervical Spinal Cord Injury
Other Processes
Evaluation of Dysphagia
References
Chapter 16: Visual Loss
Chapter Outline
Pattern of Visual Loss
Central Visual Loss
Peripheral Visual Loss
Temporal Profile of Visual Loss
Sudden-Onset Visual Loss
Transient Monocular Visual Loss
Amaurosis Fugax.
Retinal Artery Vasospasm.
Angle-Closure Glaucoma.
Visual Loss in Bright Light.
Uhthoff Phenomenon.
Transient Visual Obscurations.
Other Causes of Transient Visual Loss.
Transient Binocular Visual Loss
Sudden Monocular Visual Loss without Progression
Sudden Binocular Visual Loss without Progression
Sudden Visual Loss with Progression
Progressive Visual Loss
References
Chapter 17: Abnormalities of the Optic Nerve and Retina
Chapter Outline
Optic Nerve Anatomy and Physiology
The Swollen Optic Disc
Unilateral Optic Disc Swelling
Optic Neuritis
Ischemic Optic Neuropathy
Other Causes
Bilateral Optic Disc Swelling
Papilledema
Malignant Hypertension
Diabetic Papillopathy
Other Causes
Pseudopapilledema
Optic Disc Drusen
Optic Neuropathies with Normal-Appearing Optic Discs
Unilateral Presentations
Bilateral Presentations
Optic Neuropathies with Optic Atrophy
Congenital Optic Disc Anomalies
Tilted Optic Disc
Optic Nerve Dysplasia
Retinal Disorders
Retinal Arterial Disease
Branch Retinal Artery Occlusions and Encephalopathy (Susac Syndrome)
Ocular Ischemic Syndrome
Retinal Vein Occlusion
Retinal Degenerations
Phakomatoses
References
Chapter 18: Pupillary and Eyelid Abnormalities
Chapter Outline
Pupillary Abnormalities
Pupil Anatomy and Neural Control
Normal Pupil Phenomena
Afferent Pathological Conditions of the Pupils
Efferent Pathological Conditions of the Pupils
Clinical Presentation and Examination
Anisocoria Greater in the Light
Postganglionic Parasympathetic Dysfunction—Tonic Pupil.
Preganglionic Parasympathetic Dysfunction—Oculomotor Palsy.
Iris Sphincter Injury and Ischemia.
Pharmacological Mydriasis.
Anisocoria Greater in the Dark
Horner Syndrome.
Anterior Uveitis (Iris Inflammation).
Episodic Anisocoria
Pupillary Light-Near Dissociation
Eyelid Abnormalities
Eyelid Anatomy and Neural Control
Pathological Conditions of the Eyelids
Clinical Presentation and Examination
Pathologically Widened Palpebral Fissures
Pathologically Narrowed Palpebral Fissures
Dynamic Eyelid Abnormalities
References
Chapter 19: Disturbances of Smell and Taste
Chapter Outline
Anatomy and Physiology
Olfaction
Gustation
Chemosensory Testing
Disorders of Olfaction
Disorders of Taste
Clinical Evaluation of Taste and Smell
Treatment and Management
References
Chapter 20: Cranial and Facial Pain
Chapter Outline
History
Types of Headaches
Onset of Headaches
Frequency and Periodicity of Episodic Headaches
Temporal Profile
Time of Day and Precipitating Factors
Location
Quality and Severity
Premonitory Symptoms, Aura, and Accompanying Symptoms
Aggravating and Mitigating Factors
Family History of Headaches
Prior Evaluation
Prior Treatment
Disability
Patient Concerns and Reasons for Seeking Help
Other Medical or Neurological Problems
Examination
Diagnostic Testing
Neuroimaging and Other Imaging Studies
Computed Tomography and Magnetic Resonance Imaging
Plain Radiographs and Other Imaging of the Skull, Sinuses, and Cervical Spine
Temporomandibular Joint/Dental Imaging Studies
Cerebral Angiography
Myelography with Computed Tomography and Radioisotope Studies for Detection of Cerebrospinal Fluid Leaks
Cerebrospinal Fluid Tests
Electrophysiological Testing
General Medical Tests
Special Examinations and Consultations
Further Observation
References
Chapter 21: Brainstem Syndromes
Chapter Outline
Ocular Motor Syndromes
Combined Vertical Gaze Ophthalmoplegia
Upgaze Paresis (Dorsal Midbrain or Parinaud Syndrome)
Downgaze Paresis
Internuclear Ophthalmoplegia
Horizontal Gaze Paresis
Global Paralysis of Gaze
One-and-a-Half Syndrome
Syndromes Involving Ocular Motor Nuclei
Third Cranial Nerve Nucleus
Sixth Cranial Nerve Nucleus
Other Brainstem and Associated Syndromes
Diencephalic Syndrome (Russell Syndrome)
Thalamic Syndrome
Tectal Deafness
Foramen Magnum Syndrome
Syringobulbia
Brainstem Ischemic Stroke Syndromes
Thalamic Stroke Syndromes
Midbrain Stroke Syndromes
Pontine Stroke Syndromes
Medullary Stroke Syndromes
References
Chapter 22: Ataxic and Cerebellar Disorders
Chapter Outline
Symptoms and Signs of Ataxic Disorders
Symptoms in Patients with Ataxia
Gait Disturbances
Limb Ataxia
Truncal Ataxia
Dysarthria and Bulbar Symptoms
Visual Symptoms
Symptoms in Sensory Ataxia
Neurological Signs in Patients with Cerebellar Ataxia
Stance and Gait
Limb Incoordination
Dysmetria.
Kinetic (Intention) Tremor.
Action Tremor.
Other Types of Tremor.
Dysdiadochokinesia.
Abnormalities of Muscle Tone and Strength
Oculomotor Disturbances
Disorders of Pursuit.
Disorders of Saccades.
Other Saccadic Intrusions.
Nystagmus.
Vestibulo-Ocular Reflex.
Speech and Bulbar Function
Cognitive-Affective Features
Neurological Signs in Patients with Sensory Ataxia
Diagnostic Approach to Ataxia
References
Chapter 23: Diagnosis and Assessment of Parkinson Disease and Other Movement Disorders
Chapter Outline
Parkinsonism
Motor Abnormalities
Cognitive, Autonomic, and Sensory Abnormalities
Onset and Course
Examination and Clinical Signs
Differential Diagnosis
Tremor
Common Symptoms
Rest Tremor
Postural Tremor
Other Types of Tremor
Other Clues in the History
Examination
Dystonia
Common Symptoms
Examination
Chorea
Common Symptoms
Other Clues in the History
Examination
Tardive Dyskinesia
Ballism
Tics
Common Symptoms
Examination
Myoclonus
Common Symptoms
Examination
Miscellaneous Movement Disorders
Investigation of Movement Disorders
References
Chapter 24: Gait Disorders
Chapter Outline
Physiological and Biomechanical Aspects of Gait
Anatomical Aspects of Gait
History: Common Symptoms and Associations
Weakness
Slowness and Stiffness
Imbalance
Falls
Sensory Symptoms and Pain
Urinary Incontinence
Cognitive Changes
Examination of Posture and Walking
Arising from Sitting
Stance
Trunk Posture
Postural Responses
Walking
Initiation of Gait
Stepping
Turning
More Challenging Tests of Walking
Associated and Synergistic Limb Movements While Walking
Motor and Sensory Examination
Discrepancies on Examination of Gait
Classification of Gait Patterns
Lower Level Gait Disorders
Myopathic Weakness and Gait
Neurogenic Weakness and Gait
Sensory Ataxia
Vestibular Imbalance, Vertigo, and Gait
Middle-Level Gait Disorders
Spastic Gait
Cerebellar Ataxia
Spastic Ataxia
Hypokinetic (Parkinsonian) Gait
Choreic Gait
Dystonic Gait
Mixed Movement Disorders and Gait
Tremor of the Trunk and Legs
Action Myoclonus
Higher Level Gait Disorders
Hypokinetic Higher Level and Freezing Gait Patterns
Elderly Gait Patterns, Cautious Gaits, and Fear of Falling
Perceptions of Instability and Illusions of Movement
Reckless Gait Patterns
Hysterical and Psychogenic Gait Disorders
Musculoskeletal Disorders and Antalgic Gait
Skeletal Deformity and Joint Disease
Painful (Antalgic) Gaits
References
Chapter 25: Hemiplegia and Monoplegia
Chapter Outline
Anatomy and Physiology
Motor System Anatomy
Pyramidal Tract
Basal Ganglia
Cerebellum
Localization of Motor Deficits
Hemiplegia
Cerebral Lesions
Cortical Lesions
Infarction.
Middle Cerebral Artery.
Anterior Cerebral Artery.
Posterior Cerebral Artery.
Mass Lesion.
Subcortical Lesions
Infarction.
Lenticulostriate Arteries.
Thalamoperforate Arteries.
Demyelinating Disease.
Multiple Sclerosis.
Acute Disseminated Encephalomyelitis.
Progressive Multifocal Leukoencephalopathy.
Migraine.
Seizures.
Tumors.
Infections.
Alternating Hemiplegia of Childhood.
Hemiconvulsion–Hemiplegia–Epilepsy Syndrome.
Brainstem Lesions
Brainstem Motor Organization
Common Lesions
Spinal Lesions
Spinal Hemisection (Brown–Séquard Syndrome)
Transverse Myelitis
Spinal Cord Compression
Spinal Cord Infarction
Peripheral Lesions
Psychogenic Hemiplegia
Monoplegia
Cerebral Lesions
Infarction
Transient Ischemic Attack
Migraine
Seizure
Multiple Sclerosis
Tumors
Infections
Brainstem Lesions
Spinal Lesions
Peripheral Lesions
Pressure Palsies
Hereditary Neuropathy with Predisposition to Pressure Palsies.
Pressure Palsies in Polyneuropathy.
Mononeuropathies
Median Nerve.
Carpal Tunnel Syndrome.
Anterior Interosseus Syndrome.
Pronator Teres Syndrome.
Ulnar Nerve.
Radial Nerve Palsy.
Femoral Neuropathy.
Sciatic Neuropathy.
Peroneal (Fibular) Neuropathy.
Radiculopathies
Plexopathies
Brachial and Lumbar Plexitis (or Plexopathy).
Neoplastic Plexus Infiltration.
Radiation Plexopathy.
Plexopathy from Hematomas.
Plexus Trauma.
Thoracic Outlet Syndrome.
Diabetic Amyotrophy.
Neuronopathies
Monomelic Amyotrophy.
Poliomyelitis.
Multifocal Motor Neuropathy.
Pitfalls in the Differential Diagnosis of Hemiplegia and Monoplegia
Pitfalls in the Differential Diagnosis of Hemiplegia and Monoplegia
Focal Weakness of Apparently Central Origin
Focal Weakness That Appears to Be Central: Cerebral Cortex, Internal Capsule, Brainstem, or Spinal Cord?
Focal Weakness That Appears to Be Central: Migraine, TIA, or Seizure?
Weakness of the Hand and Wrist
Weakness in Intrinsic Muscles of the Hand: Median Nerve, Ulnar Nerve, Brachial Plexus, or Small Cerebral Cortical Lesion?
Weakness of the Wrist: Radial Neuropathy or Small Cerebral Cortical Infarcts?
Leg Weakness
Peroneal Nerve Palsy or Paramedian Cerebral Cortical Lesion?
Cauda Equina Lesion, Myelopathy, or Paramedian Cerebral Cortical Lesion?
References
Chapter 26: Paraplegia and Spinal Cord Syndromes
Chapter Outline
Common Spinal Cord Syndromes
Spinal Shock
Incomplete Lesions of the Spinal Cord
Unilateral Transverse Lesion
Central Cord Syndrome
Anterior Spinal Artery Syndrome
Anterior Horn and Pyramidal Tract Syndromes
Combined Posterior and Lateral Column Disease
Characteristic Clinical Features of Lesions at Different Levels
Foramen Magnum and Upper Cervical Spine
Lower Cervical and Upper Thoracic Spine
Thoracic Levels
Conus Medullaris and Cauda Equina
Pain and Autonomic Dysfunction
Pain Syndromes
Local Pain
Projected Pain
Central Neurogenic Pain
Autonomic Dysreflexia
Bowel and Bladder Dysfunction
References
Chapter 27: Proximal, Distal, and Generalized Weakness
Chapter Outline
Clinical Presentation by Affected Region
General Considerations
Ocular Muscles
Facial and Bulbar Muscles
Neck, Diaphragm, and Axial Muscles
Proximal Upper Extremity
Distal Upper Extremity
Proximal Lower Extremity
Distal Lower Extremity
Bedside Examination of the Weak Patient
Observation
Muscle Bulk and Deformities
Muscle Palpation, Percussion, and Range of Motion
Muscle Tone
Strength
Fatigue
Reflexes
Sensory Disturbances
Peripheral Nerve Enlargement
Fasciculations, Cramps, and Other Abnormal Muscle Movements
Functional Evaluation of the Weak Patient
Walking
Arising from the Floor
Stepping onto a Stool
Psychogenic Weakness
Clinical Investigations in Muscular Weakness
Serum Creatine Kinase
Electromyography
Muscle Biopsy
Genetic Testing
Exercise Testing
Differential Diagnosis by Affected Region and Other Manifestations of Weakness
Disorders with Prominent Ocular Weakness
Disorders with Distinctive Facial or Bulbar Weakness
Disorders with Prominent Respiratory Weakness
Disorders with Distinctive Shoulder-Girdle or Arm Weakness
Disorders with Prominent Hip-Girdle or Leg Weakness
Disorders with Fluctuating Weakness
Disorders Exacerbated by Exercise
Disorders with Constant Weakness
Acquired Disorders Causing Weakness
Lifelong Disorders
Lifelong Nonprogressive Disorders
Lifelong Disorders Characterized by Progressive Weakness
Other Conditions
References
Chapter 28: Muscle Pain and Cramps
Chapter Outline
General Features of Pain
Muscle Pain: Basic Concepts
Nociceptor Terminal Stimulation and Sensitization
Nociceptive Axons
Clinical Features of Muscle Pain
General Features of Muscle Pain
Evaluation of Muscle Discomfort
Muscle Discomfort: Specific Causes
Myopathies with Muscle Pain
Muscle Cramps
Other Involuntary Muscle Contraction Syndromes
Myalgia Syndromes without Chronic Myopathy
References
Chapter 29 Hypotonic (Floppy) Infant
Chapter Outline
Approach to Diagnosis
History
Physical Examination
General Features of Hypotonia
Localization
Diagnostic Studies
Neuroimaging
Electroencephalography
Creatine Kinase
Metabolic Studies
Nerve Conduction Studies and Electromyography
Muscle Biopsy
Nerve Biopsy
Genetic Testing
Serology
Specific Disorders Associated with Hypotonia in Infancy
Cerebral Disorders
Chromosomal Disorders
Chronic Nonprogressive Encephalopathy
Chronic Progressive Encephalopathy
Benign Congenital Hypotonia
Combined Cerebral and Motor Unit Disorders
Acid Maltase Deficiency
Congenital Myotonic Dystrophy
Infantile Facioscapulohumeral Dystrophy
Syndromic Congenital Muscular Dystrophies
Congenital Disorders of Glycosylation
Lysosomal Disorders
Infantile Neuroaxonal Dystrophy
Spinal Cord Disorders
Acquired Spinal Cord Lesions
Spinal Muscular Atrophy
Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1
X-linked Spinal Muscular Atrophy
Peripheral Nerve Disorders
Neuromuscular Junction Disorders
Juvenile Myasthenia Gravis
Neonatal Myasthenia
Congenital Myasthenic Syndromes
Infant Botulism
Muscle Disorders
Congenital Myopathies
Centronuclear Myopathy.
Nemaline Myopathy.
Central Core Disease.
Nonsyndromic Congenital Muscular Dystrophies
Merosin-Deficient Congenital Muscular Dystrophy.
Ullrich Congenital Muscular Dystrophy.
Summary
References
Chapter 30: Sensory Abnormalities of the Limbs, Trunk, and Face
Chapter Outline
Anatomy and Physiology
Peripheral Pathways
Spinal Cord Pathways
Brain Pathways
Brainstem
Thalamus
Cerebral Cortex
Sensory Input Processing
Approach to Localization and Diagnosis
Sensory Abnormalities
Localization of Sensory Abnormalities
Peripheral Sensory Lesions
Spinal Sensory Lesions
Sensory Level.
Dissociated Sensory Loss.
Suspended Sensory Loss.
Sacral Sparing.
Brainstem Sensory Lesions
Cerebral Sensory Lesions
Thalamic Lesions.
Cortical Lesions.
Common Sensory Syndromes
Peripheral Syndromes
Sensory Polyneuropathy
Diabetic Neuropathies
Small Fiber Neuropathy
Acquired Immunodeficiency Syndrome-Associated Neuropathies
Toxic Neuropathies
Amyloid Neuropathy
Proximal Sensory Loss
Temperature-Dependent Sensory Loss
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Mononeuropathy
Carpal Tunnel Syndrome.
Ulnar Neuropathy.
Radial Neuropathy.
Radiculopathy
Spinal Syndromes
Myelopathy
Syringomyelia
Spinal Hemisection
Tabes Dorsalis and Related Disorders
Brain Syndromes
Thalamic Infarction and Hemorrhage
Thalamic Pain Syndrome (Central Post-Stroke Pain)
Trigeminal Neuralgia
Mental Neuropathy (Numb Chin Syndrome)
Cortical Infarction
Deficits of Higher Sensory Perception
Functional (or Psychogenic) Sensory Loss
Pitfalls
Acute Inflammatory Demyelinating Polyneuropathy in a Patient with Known Peripheral Neuropathy
Myelopathy vs Midline Cerebral Lesion
References
Chapter 31: Arm and Neck Pain
Chapter Outline
Clinical Assessment
History
Neurological Causes of Pain: Sites That Can Trigger Pain
Muscle Spasm.
Central Pain.
Nerve Root Pain.
Ulnar Nerve Pain.
Median Nerve Pain.
Plexus Pain.
Non-Neurological Causes of Neck Pain and Brachialgia
Examination
Motor Signs—Atrophy and Weakness
Sensory Signs
Tendon Reflexes
Pathology and Clinical Syndromes
Spinal Cord Syndromes
Intramedullary Lesions
Extramedullary Lesions
Other Cord Compression Syndromes
Radiculitis
Brachial Plexopathy
Brachial Neuritis (Neuralgic Amyotrophy, Parsonage-Turner Syndrome)
Brachial Plexopathy in Cancer Patients
Thoracic Outlet Syndrome
Suprascapular Nerve Entrapment
Carpal Tunnel Syndrome
Ulnar Entrapment at the Elbow
Radial Nerve–Posterior Interosseus Nerve Syndrome
Complex Regional Pain Syndrome
“In-Between” Neurogenic and Non-Neurogenic Pain Syndrome—Whiplash Injury
Rheumatoid Arthritis of the Spine
Non-Neurological Neck/Arm Pain Syndromes
Fibromyalgia and Myofascial Syndrome
Polymyalgia Rheumatica
Tendonitis, Bursitis, and Arthritis
Shoulder.
Elbow
Epicondylitis.
Olecranon Bursitis.
Wrist
Tendonitis.
Hands.
Further Reading
Chapter 32: Lower Back and Lower Limb Pain
Chapter Outline
Anatomy and Physiology
Approach to Diagnosis of Low Back and Leg Pain
History and Examination
Differential Diagnosis of Lower Back and Leg Pain
Evaluation
Magnetic Resonance Imaging
Myelography and Postmyelographic Computed Tomography
Nerve Conduction Studies and Electromyography
Radiography
Bone Scan
Clinical Syndromes
Lower Back and Leg Pain
Lumbar Spine Stenosis
Cauda Equina Syndrome and Conus Medullaris Syndrome
Lumbosacral Radiculopathy
Arachnoiditis
Plexopathy
Neoplastic Lumbosacral Plexopathy.
Plexus Injury from Retroperitoneal Abscess.
Plexus Injury from Retroperitoneal Hematoma.
Leg Pain without Lower Back Pain
Peripheral Nerve Syndromes
Femoral Neuropathy.
Meralgia Paresthetica.
Sciatic Neuropathy.
Piriformis Syndrome.
Peroneal (Fibular) Neuropathy.
Polyneuropathy.
Plexopathy
Lumbosacral Plexitis.
Diabetic Amyotrophy.
Herpes Zoster
Claudication of Leg Arteries
Lower Back Pain without Leg Pain
Mechanical Lower Back Pain
Sacroiliac Joint Inflammation (Sacroilitis)
Facet Joint Pain Syndrome
Lumbar Spine Osteomyelitis
Lumbar Spine Compression
Lumbar Diskitis
Spinal epidural abscess
Pitfalls
Low Back Pain: Disc, Tumor, Diskitis, or Epidural Abscess
Lower Back Pain from Intra-abdominal and Pelvic Causes
Lower Back and Leg Pain from Arterial Insufficiency
References
Part II: Neurological Investigations and Related Clinical Neurosciences
Section A: General Principles
Chapter 33: Laboratory Investigations in Diagnosis and Management of Neurological Disease
Chapter Outline
Diagnostic Yield of Laboratory Tests
Interpretation of Results of Laboratory Investigations
Risk and Cost of Investigations
Risk-to-Benefit Analysis
Lumbar Puncture
Cerebral Arteriography
Brain Biopsy
Cost-to-Benefit Analysis
Prioritization of Tests
Reliability of Laboratory Investigations
Decision Analysis
Research Investigations and Teaching Hospitals
Patient Confidentiality
Role of Laboratory Investigations in Neurological Disease Management
Section B: Clinical Neurophysiology
Chapter 34: Electroencephalography and Evoked Potentials
Chapter Outline
Electroencephalography
Physiological Principles of Electroencephalography
Normal Electroencephalographic Activities
Common Types of Electroencephalographic Abnormalities
Focal Polymorphic Slow Activity
Generalized Polymorphic Slow Activity
Intermittent Monomorphic Slow Activity
Voltage Attenuation
Epileptiform Discharges
Recording Techniques
Clinical Uses of Electroencephalography
Epilepsy
Focal Cerebral Lesions
Altered States of Consciousness
Metabolic Encephalopathies
Hypoxia
Infectious Diseases
Brain Death
Aging and Dementia
Continuous EEG Monitoring in the Intensive Care Unit
cEEG Monitoring for Nonconvulsive Seizures
Electrographic Identification of Nonconvulsive Seizures
The “Ictal-Interictal Continuum”
Periodic Discharges
Stimulus-Induced Rhythmic, Periodic, or Ictal Discharges
Quantitative EEG
Magnetoencephalography
Magnetoencephalography
Evoked Potentials
Visual Evoked Potentials
Normal Visual Evoked Potentials
Visual Evoked Potentials in Neurological Disease
Brainstem Auditory Evoked Potentials
Normal Brainstem Auditory Evoked Potentials
Brainstem Auditory Evoked Potentials in Neurological Disease
Somatosensory Evoked Potentials
Median Nerve Somatosensory Evoked Potentials
Posterior Tibial Nerve Somatosensory Evoked Potentials
Somatosensory Evoked Potentials in Neurological Disease
Motor Evoked Potentials and Magnetic Coil Stimulation
Intraoperative Monitoring
References
Chapter 35: Clinical Electromyography
Chapter Outline
Nerve Conduction Studies
Principles
Stimulators
Recording Electrodes
Recording Procedure
Motor Nerve Conduction Studies
Sensory Nerve Conduction Studies
Mixed Nerve Conduction Studies
Segmental Stimulation in Short Increments
Physiological Variability and Common Sources of Error
Temperature
Age
Height and Nerve Segment Lengths
Anomalies
Martin–Gruber Anastomosis.
Accessory Deep Peroneal Nerve.
Pre- and Post-Fixed Brachial Plexus.
Riche–Cannieu Anastomosis.
Temporal Dispersion and Phase Cancellation
Intertrial Variability
Electrodiagnosis by Nerve Conduction Studies
Focal Nerve Lesions
Demyelinative Mononeuropathy.
Axon-Loss Mononeuropathy.
Preganglionic (Intraspinal Canal) Lesions.
Generalized Polyneuropathies
Axonal Polyneuropathies.
Demyelinating Polyneuropathies.
Needle Electromyographic Examination
Principles and Techniques
Insertional and Spontaneous Activity
Normal Insertional and Spontaneous Activity
End-Plate Noise (see Video 35.1, available at http://www.experconsult.com).
End-Plate Spikes (see Video 35.2, available at http://www.experconsult.com).
Abnormal Insertional and Spontaneous Activity
Prolonged Versus Decreased Insertional Activity.
Fibrillation Potentials (see Video 35.3, available at http://www.experconsult.com).
Fasciculation Potentials (see Video 35.4, available at http://www.experconsult.com).
Myotonic Discharges (see Video 35.5, available at http://www.experconsult.com).
Myokymic Discharges (see Video 35.6, available at http://www.experconsult.com).
Complex Repetitive Discharges (see Video 35.7, available at http://www.experconsult.com).
Neuromyotonic Discharges (see Video 35.8, available at http://www.experconsult.com).
Cramp Discharges (see Video 35.9, available at http://www.experconsult.com).
Voluntary Motor Unit Action Potentials
MUAP Morphology (see Videos 35.10, 35.11, 35.12, 35.13, available at http://www.experconsult.com)
Amplitude.
Duration.
Phases.
MUAP Stability (see Video 35.14, available at http://www.experconsult.com)
MUAP Firing Patterns (see Videos 35.10, 35.13, 35.15, 35.16, available at http://www.experconsult.com)
Electrodiagnosis by Needle Electromyography
Lower Motor Neuron Disorders
Radiculopathies.
Plexopathies.
Mononeuropathies.
Peripheral Polyneuropathies.
Anterior Horn Cell Disorders.
Upper Motor Neuron Lesions
Myopathic Disorders
Specialized Electrodiagnostic Studies
F Wave
A Wave
H Reflex
Blink Reflex
Repetitive Nerve Stimulation
Principles
Slow Repetitive Nerve Stimulation
Rapid Repetitive Nerve Stimulation
Single-Fiber Electromyography
Fiber Density
Jitter
References
References
Chapter 36: Neuromodulation and Transcranial Magnetic Stimulation
Chapter Outline
Methods and Their Neurophysiological Background
Stimulation Parameters for Diagnostic Use of TMS
Central Motor Conduction Measurements
Motor Excitability Measurements
Motor Thresholds
MEP Recruitment Curve (Stimulus Response Curve; Input–Output Curve)
Silent Period and Long-Interval Intracortical Inhibition (LICI)
Short-Interval Intracortical Inhibition (SICI) and Intracortical Facilitation (ICF)
Short-Interval Intracortical Facilitation (SICF)
Short-Latency and Long-Latency Afferent Inhibition (SAI and LAI)
Surround Inhibition (SI)
Other Inhibitory Phenomena of the Motor Cortex
Motor Cortical Plasticity Measurements—Paired Associative Stimulation
Clinical Applications for Diagnostic Use of TMS
Movement Disorders
Parkinson Disease and Parkinson Plus Syndromes
Dystonia
Huntington Disease
Other Neurodegenerative Disorders
Dementia and Mild Cognitive Impairment
Amyotrophic Lateral Sclerosis
Cerebellar Disorders
Epilepsy and Antiepileptic Drugs
Stroke
Multiple Sclerosis (MS)
Migraine
Cervical Myelopathy and Other Spinal Cord Lesions
Therapeutic Applications
Rationale for rTMS
Basic Principles of rTMS
Current Concepts of Therapeutic Application of rTMS
Depression
Auditory Hallucinations and Negative Symptoms in Schizophrenia
Parkinson Disease
Dystonia
Pain and Migraine
Tinnitus
Stroke with Motor Deficits, Aphasia, and Hemispatial Neglect
Amyotrophic Lateral Sclerosis
Epilepsy
Conclusion and Outlook
References
Chapter 37: Deep Brain Stimulation
Chapter Outline
Parkinson Disease
Clinical Evidence: Randomized Controlled Trials
Dystonia
Tremor
Neuropsychiatric Disorders
Tourette Syndrome
Depression
Obsessive-Compulsive Disorder
Drug Addiction
Pain
Epilepsy
Closed Loop Stimulation—The Epilepsy Experience
Conclusions and the Future of DBS
References
Chapter 38: Intraoperative Monitoring
Chapter Outline
Introduction
Techniques
Spinal Cord Monitoring Techniques
Interpretation
Monitoring
Testing
Response to Change
Prediction of Deficits
Anesthesia
Clinical Settings
References
Section C: Neuroimaging
Chapter 39: Structural Imaging using Magnetic Resonance Imaging and Computed Tomography
Chapter Outline
Computed Tomography
Magnetic Resonance Imaging
Basic Principles
T1 and T2 Relaxation Times
Repetition Time and Time to Echo
Tissue Contrast (T1, T2, and Proton Density Weighting)
Magnetic Resonance Image Reconstruction
Spin Echo and Fast (Turbo) Spin Echo Techniques
Gradient-Recalled Echo Sequences, Partial Flip Angle
Inversion Recovery Sequences (FLAIR, STIR)
Fat Saturation
Echoplanar Imaging
Diffusion-Weighted Magnetic Resonance Imaging
Perfusion-Weighted Magnetic Resonance Imaging
Susceptibility-Weighted Imaging
Diffusion Tensor Imaging
Magnetization Transfer Contrast Imaging
Structural Neuroimaging in the Clinical Practice of Neurology
Brain Diseases
Brain Tumors
Intra-axial Primary Brain Tumors
Ganglioglioma and Gangliocytoma.
Pilocytic Astrocytomas.
Pleomorphic Xanthoastrocytoma.
Low-Grade Astrocytomas.
Anaplastic Astrocytoma.
Oligodendroglioma.
Oligoastrocytoma.
Gliomatosis Cerebri.
Glioblastoma Multiforme.
Ependymoma.
Lymphoma.
Hemangioblastoma.
Extra-axial Primary Brain Tumors
Meningiomas.
Schwannoma.
Primitive Neuroectodermal Tumor.
Medulloblastoma.
Esthesioneuroblastoma.
Pineoblastoma.
Other Pineal Region Tumors.
Pineocytoma.
Germ Cell Tumors (Germinoma).
Central Neurocytoma.
Subependymal Giant Cell Astrocytoma.
Choroid Plexus Papilloma.
Subependymoma.
Tumors in the Sellar and Parasellar Region
Pituitary Adenomas.
Craniopharyngioma.
Metastatic Tumors
Advanced Structural Neuroimaging for Planning of Brain Tumor Surgery.
Ischemic Stroke
Acute Ischemic Stroke.
Temporal Evolution of Ischemic Stroke on Magnetic Resonance Imaging
Acute Stroke.
Subacute Ischemic Stroke (1 Day to 1 Week after Onset).
Late Subacute Ischemic Stroke (1 to 3 Weeks after Onset).
Chronic Ischemic Stroke (3 Weeks and Older).
Stroke Etiology
Watershed Ischemic Stroke.
Ischemic Stroke of Thromboembolic Origin.
Lacunar Ischemic Stroke.
Other Cerebrovascular Occlusive Disease
Microvascular Ischemic White Matter Lesions, “White Matter Disease,” Binswanger Disease.
CADASIL.
Hippocampal Sclerosis.
Venous Stroke.
Cerebral Venous Sinus Thrombosis.
Hemorrhagic Cerebrovascular Disease
Hyperacute Hemorrhage (0 to 24 Hours).
Acute Hemorrhage (1 to 3 Days).
Early Subacute Hemorrhage (3 Days to 1 Week).
Late Subacute Hemorrhage (1 to 4 Weeks).
Chronic Hemorrhage (>4 Weeks).
Superficial Siderosis
Cerebral Amyloid Angiopathy
Infection
Bacterial Meningitis.
Cerebritis, Abscess.
CNS Tuberculosis.
Lyme Disease.
Cysticercosis.
Herpes Simplex Encephalitis.
Human Immunodeficiency Virus Encephalitis.
Cerebral Toxoplasmosis.
Progressive Multifocal Leukoencephalopathy.
Cytomegalovirus.
Creutzfeldt-Jakob Disease.
Noninfectious Encephalitis
Limbic Encephalitis.
Multiple Sclerosis and Other White Matter Diseases
Multiple Sclerosis.
Inflammatory and Noninflammatory Lesions of the Corpus Callosum.
Acute Disseminated Encephalomyelitis.
Neurosarcoidosis.
Leukodystrophy.
Krabbe Disease.
Metachromatic Leukodystrophy.
Adrenoleukodystrophy.
Radiation Leukoencephalopathy.
Posterior Reversible Encephalopathy Syndrome.
Central Pontine Myelinolysis.
Trauma
Traumatic Subarachnoid Hemorrhage.
Subdural Hemorrhage.
Epidural Hemorrhage.
Cortical Contusion.
Diffuse Axonal Injury.
Cerebral Parenchymal Hematoma.
Metabolic and Toxic Disorders
Disorders due to Ethanol.
Carbon Monoxide Poisoning.
Methanol Poisoning.
Wilson Disease.
Mitochondrial Disease.
Genetic and Degenerative Disorders Primarily Causing Ataxia (Cerebellar Disorders)
Multiple System Atrophy, Cerebellar Subtype.
Spinocerebellar Ataxias.
Friedreich Ataxia.
Ataxia-Telangiectasia.
Fragile X Premutation Syndrome.
Genetic and Degenerative Disorders Primarily Causing Parkinsonism or Other Movement Disorders
Idiopathic Parkinson Disease.
Progressive Supranuclear Palsy.
Multiple System Atrophy, Parkinsonian Variant (Striatonigral Degeneration).
Huntington Disease.
Degenerative Disorders Primarily Causing Dementia
Age-Related Involutional Changes.
Alzheimer Disease.
Frontotemporal Lobar Degeneration, Including Pick Disease.
Neurocutaneous Syndromes
Neurofibromatosis.
Hamartoma.
Neurofibroma.
Tuberous Sclerosis (Bourneville Disease).
Cortical Tubers.
Subependymal Nodules.
White Matter Lesions.
Von Hippel-Lindau Disease.
Sturge-Weber Syndrome.
Congenital Anomalies of the Brain
Holoprosencephaly.
Septo-Optic Dysplasia.
Dandy-Walker Malformation.
Agenesis of the Corpus Callosum.
Gray Matter Heterotopia.
Pachygyria, Polymicrogyria, Lissencephaly.
Schizencephaly.
Porencephaly.
Hydranencephaly.
Lipomas.
Non-neoplastic Congenital Cystic Lesions
Epidermoid.
Dermoid.
Colloid Cyst.
Arachnoid Cyst.
Dilated Virchow-Robin Spaces.
Choroid Fissure Cyst.
Choroid Plexus Cyst.
Ependymal Cyst.
Neuroglial Cyst.
Vascular Malformations
Arteriovenous Malformations.
Cavernous Malformation.
Developmental Venous Anomaly.
Capillary Telangiectasia.
Cerebrospinal Fluid Circulation Disorders
Obstructive, Noncommunicating Hydrocephalus.
Normal-Pressure Hydrocephalus.
Chiari Malformation.
Idiopathic Intracranial Hypertension (Pseudotumor Cerebri).
Intracranial Hypotension.
Orbital Lesions
Ocular Tumors.
Optic Nerve Tumors.
Thyroid Ophthalmopathy.
Optic Neuritis.
Orbital Pseudotumor.
Spinal Diseases
Spinal Tumors
Vertebral Metastases, Extradural Tumors.
Extramedullary Intradural Spinal Tumors.
Leptomeningeal Metastases.
Spinal Meningiomas.
Nerve Sheath Tumors.
Embryonal Tumors.
Intramedullary Tumors.
Ependymoma.
Astrocytoma.
Intramedullary Metastases.
Vascular Disease
Spinal Cord Infarction.
Arteriovenous Malformation.
Dural Arteriovenous Fistula.
Cavernous Malformation.
Infection
Discitis and Osteomyelitis.
Epidural Abscess, Paravertebral Phlegmon.
Noninfectious Inflammatory Disorders
Multiple Sclerosis.
Acute Disseminated Encephalomyelitis.
Transverse Myelitis.
Sarcoidosis.
Vacuolar Myelopathy.
Trauma
Hangman’s Fracture.
Odontoid Fracture.
Burst Fracture.
Jefferson Fracture.
Facet Joint Disruption, Traumatic Spondylolisthesis.
Spinal Epidural Hematoma.
Spinal Subdural Hematoma.
Spinal Subarachnoid Hemorrhage.
Spinal Cord Trauma.
Spinal Cord Injury without Radiologic Abnormality.
Metabolic and Hereditary Myelopathies
Metabolic and Hereditary Myelopathies
Subacute Combined Degeneration.
Adrenomyeloneuropathy.
Spinocerebellar Ataxias.
Friedreich Ataxia.
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia.
Degenerative Spine Disease
Degenerative Disk Disease.
Degenerative Changes of the Vertebral Bodies.
Degenerative Changes of the Posterior Elements.
Spondylolysis, Spondylolisthesis.
Indications for Computed Tomography or Magnetic Resonance Imaging
Selecting CT versus MRI for Neuroimaging in Practice
Neuroimaging in Various Clinical Situations
Sudden Neurological Deficit
Headache
Visual Impairment
Vertigo and Hearing Loss
Progressive Weakness or Numbness of Central or Peripheral Origin
Progressive Ataxia, Gait Disorder
Movement Disorders
Cognitive or Behavioral Impairment
Epilepsy
Trauma
Myelopathy
Low Back Pain
References
Chapter 40: Vascular Imaging: Computed Tomographic Angiography, Magnetic Resonance Angiography, and Ultrasound
Chapter Outline
Computed Tomographic Angiography
Methods
Limitations
Contrast-Induced Nephropathy
Metal Artifacts
Applications
Extracranial Circulation
Carotid Artery Stenosis.
Carotid and Vertebral Dissection.
Intracranial Circulation
Acute Ischemic Stroke.
Intracranial Stenosis.
Cerebral Venous Thrombosis.
Intracerebral Hemorrhage.
Cerebral Aneurysms.
Cerebral Vascular Malformations.
Brain Death.
Magnetic Resonance Angiography
Methods
Limitations
Nephrogenic Systemic Fibrosis
Metal Implant Contraindications
Applications
Extracranial Carotid and Vertebral Circulation
Time-Of-Flight MRA.
Three-Dimensional Contrast-Enhanced MRA.
Intracranial Circulation
Subclavian Steal Syndrome.
Acute Ischemic Stroke.
Cerebral Aneurysms.
Venous Disorders.
Vascular Malformations.
Spine Disorders
Ultrasound
Methods
Techniques
Carotid Ultrasonography
Vertebral Ultrasonography
Transcranial Doppler Ultrasonography
Transcranial Color-Coded Duplex Ultrasonography
Applications
Acute Ischemic Stroke
Recent Transient Ischemic Attack or Stroke
Extracranial Stenotic Lesions
Intracranial Stenotic Lesions
Aneurysmal Subarachnoid Hemorrhage
Cerebrovascular Reactivity
Sickle Cell Disease
Brain Death
Periprocedural Monitoring
References
Chapter 41: Functional Neuroimaging: Functional Magnetic Resonance Imaging, Positron Emission Tomography, and Single-Photon Emission Computed Tomography
Chapter Outline
Functional Neuroimaging Modalities
Functional Magnetic Resonance Imaging
Positron Emission Tomography
Single-Photon Emission Computed Tomography
Clinical Applications
Dementia and Mild Cognitive Impairment
Alzheimer Disease
Mild Cognitive Impairment
Dementia with Lewy Bodies
Frontotemporal Dementia
Vascular Dementia
Parkinsonism
Brain Tumors
Epilepsy
Presurgical Brain Mapping
Recovery from Stroke
Individual Prediction of Recovery-Beneficial Brain Reorganization?
Understanding the Networks
Conscious and Unconscious Processes
References
Chapter 42: Chemical Imaging: Ligands and Pathology-Seeking Agents
Chapter Outline
Principles of Positron Emission Tomography
Positron Emission Tomography versus Single-Photon Emission Computed Tomography
Neurochemical Targets of Interest
Monoamines
Cholinergic Systems
Neuropeptides
Amino Acids
Assessment of Pathology
Inflammation
Abnormal Protein Deposition
Clinical Studies
Parkinson Disease
Alzheimer Disease
Epilepsy
Concluding Comments
References
Section D: Clinical Neurosciences
Chapter 43: Neuropsychology
Chapter Outline
Goals of Neuropsychology
Neuropsychological Evaluation
Test Administration
Test Interpretation
Brief Mental Status Examination
Montreal Cognitive Assessment
Telephone Interview for Cognitive Status—Modified
Mini-Mental State Examination
Modified Mini-Mental State Examination
Neuropsychological Characteristics of Neurological Disease
Mild Cognitive Impairment
Alzheimer Disease
Vascular Dementia
Mixed Dementia
Frontotemporal Dementia
Parkinson Disease with Dementia and Dementia with Lewy Bodies
Huntington Disease
Multiple Sclerosis
Epilepsy
Traumatic Brain Injury
References
Chapter 44: Neuro-ophthalmology: Ocular Motor System
Chapter Outline
Heterophorias and Heterotropias
Comitant Strabismus
Noncomitant (Incomitant) Strabismus
Diplopia
Clinical Assessment
History
General Inspection
Head Posture
Sensory Visual Function
Stability of Fixation
Versions (Pursuit, Saccades, and Ocular Muscle Overaction)
Convergence
Ductions
Ocular Alignment and Muscle Balance
The sagging eye syndrome
Three-Step Test for Vertical Diplopia
Fatigability
Forced Ductions
Signs Associated with Diplopia
Edrophonium (Tensilon) Test
Acute Bilateral Ophthalmoplegia
Chronic Bilateral Ophthalmoplegia
Treatment
Related Disorders
Nystagmus
Mechanisms
Clinical Evaluation
Nystagmus Syndromes
Congenital Forms of Nystagmus
Nystagmus Blockage Syndrome
Pendular Nystagmus
Oculomasticatory Myorhythmia
Gaze-Paretic Nystagmus
Vestibular Nystagmus
Caloric-Induced Nystagmus
Physiological Nystagmus
Dysconjugate Nystagmus
Monocular Nystagmus
Upbeat Nystagmus
Downbeat Nystagmus
Periodic Alternating Nystagmus
Rebound Nystagmus
Centripetal Nystagmus
Convergence-Evoked Nystagmus
Seesaw Nystagmus
Torsional (Rotary) Nystagmus
Ictal Nystagmus
Bruns Nystagmus
Episodic Nystagmus (Periodic Nystagmus)
Perverted Nystagmus
Lid Nystagmus
Optokinetic Nystagmus
Treatment
Saccadic Intrusions and Other Non-Nystagmus Ocular Oscillations
Voluntary Nystagmus
Ocular Flutter
Opsoclonus
Ocular Microflutter
Ocular Dysmetria
Flutter Dysmetria
Convergence Retraction Nystagmus
Ocular Bobbing
Ocular Myoclonus (Oculopalatal Tremor)
Superior Oblique Myokymia
Saccadic Intrusions and Oscillations
Generation and Control of Eye Movements
Ocular Motor Subsystems
Horizontal Eye Movements
Vergence Eye Movements
Vertical Eye Movements
Development of the Ocular Motor System
Supranuclear Gaze Disturbances
Ocular Motor Apraxia
Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia
Autosomal Recessive Ataxia with Ocular Motor Apraxia
Ataxia with Ocular Motor Apraxia Type 1 Syndrome
Ataxia with Ocular Apraxia Type 2
Spasm of Fixation
Familial Horizontal Gaze Palsy
Acquired Horizontal Gaze Palsy
Wrong-Way Eyes
Periodic Alternating Gaze Deviation
Ping-Pong Gaze
Saccadic Lateropulsion
Torsional Saccades
Slow Saccades
Prolonged Saccadic Latency
Square-Wave Jerks
Internuclear Ophthalmoplegia
One-and-a-Half Syndrome
Disorders of Vertical Gaze
Disorders of Convergence
Disorders of Divergence
Eye Movement Recording Techniques
References
Chapter 45: Neuro-Ophthalmology: Afferent Visual System
Chapter Outline
Neuro-ophthalmological Examination of the Afferent Visual System
Examination of Visual Acuity
Contrast Vision Testing
Light-Stress Test
Color Vision Testing
Examination of the Pupils
Light Brightness Comparison
Visual Field Testing
Interpretation of Visual Field Defects
Rule 1
Rule 2
Rule 3
Rule 4
Rule 5
Rule 8
Ancillary Diagnostic Techniques
Perimetry
Ophthalmic Imaging
Electrophysiology
Nonorganic (Functional) Visual Disturbances
Diagnostic Techniques
Prognosis
References
Chapter 46: Neuro-otology: Diagnosis and Management of Neuro-otological Disorders
Chapter Outline
Historical Background
Epidemiology of Vertigo, Dizziness, and Hearing Loss
Normal Anatomy and Physiology
History of Present Illness
Physical Examination
General Medical Examination
General Neurological Examination
Neuro-otological Examination
Ocular Motor (see Chapter 44)
Gaze Testing
Smooth Pursuit
Saccades
Optokinetic Nystagmus and Fixation Suppression of the Vestibulo-ocular Reflex
Vestibular Nerve Examination
Positional Testing
Fistula Testing
Gait
Auditory Examination
Specific Disorders Causing Vertigo
Peripheral Vestibular Disorders
Vestibular Neuritis
Benign Paroxysmal Positional Vertigo
Meniere Disease
Vestibular Paroxysmia
Vestibular Fistulae
Other Peripheral Disorders
Central Nervous System Disorders
Brainstem or Cerebellar Ischemia/Infarction
Multiple Sclerosis
Posterior Fossa Structural Abnormalities
Neurodegenerative Disorders
Epilepsy
Vertigo in Inherited Disorders
Migraine
Familial Bilateral Vestibulopathy
Familial Hearing Loss and Vertigo
Familial Ataxia Syndromes
Common Causes of Nonspecific Dizziness
Common Presentations of Vertigo
Acute Severe Vertigo
Recurrent Attacks of Vertigo
Recurrent Positional Vertigo
Hearing Loss
Conductive Hearing Loss
Sensorineural Hearing Loss
Central Hearing Loss
Specific Disorders Causing Hearing Loss
Meniere Disease
Cerebellopontine Angle Tumors
Superior Canal Dehiscence
Otosclerosis
Noise-Induced Hearing Loss
Genetic Disorders
Ototoxicity
Common Presentations of Hearing Loss
Asymmetrical Sensorineural Hearing Loss
Sudden Sensorineural Hearing Loss
Hearing Loss with Age
Tinnitus
Laboratory Investigations in Diagnosis and Management
Dizziness and Vertigo
General Tests
Imaging
Vestibular Testing
Eye Movement Recording
Methods of Recording Eye Movements.
Eye Movement Subtests.
Recording Pathological Spontaneous Eye Movements.
Visual Ocular Motor Control
Saccades.
Smooth Pursuit.
Optokinetic Nystagmus.
Bithermal Caloric Testing.
Rotational Testing.
Quantivative Head-Thrust Testing.
Posturography.
Vestibular Evoked Myogenic Potentials.
Hearing Loss and Tinnitus
Auditory Testing
Pure-Tone Testing.
Speech Testing.
Middle Ear Testing.
Acoustic Reflex Testing.
Evoked Potentials (see Chapter 34).
Other Tests.
Management of Patients with Vertigo
Treatments of Specific Disorders
Symptomatic Treatment of Vertigo
Management of Patients with Hearing Loss and Tinnitus
References
Chapter 47: Neurourology
Chapter Outline
Lower Urinary Tract and Its Neurological Control
The Bowel and Its Neurological Control
Sexual Function and Its Neurological Control
Male Sexual Response
Female Sexual Response
Neurogenic Bladder Dysfunction
Cortical Lesions
Bladder Dysfunction
Bowel Dysfunction
Bowel Dysfunction
Sexual Dysfunction
Basal Ganglia Lesions
Parkinson Disease (PD)
Multiple System Atrophy
Pure Autonomic Failure
Bowel Dysfunction
Bowel Dysfunction
Sexual Dysfunction
Brainstem Lesions
Spinal Cord Lesions
Bladder Dysfunction
Spinal Cord Injury (SCI)
Multiple Sclerosis
Bowel Dysfunction
Bowel Dysfunction
Sexual Dysfunction
Male Sexual Dysfunction
Female Sexual Dysfunction.
Impaired Sympathetic Thoracolumbar Outflow
Conus and Cauda Equina Lesions
Disturbances of Peripheral Innervation
Diabetic Neuropathy
Amyloid Neuropathy
Immune-Mediated Neuropathies
Autoimmune Autonomic Ganglionopathy
Myotonic Dystrophy
Urinary Retention in Young Women
Diagnostic Evaluation
History
Bladder Diary
Physical Examination
Investigations
Screening for Urinary Tract Infections
Bladder Scan
Ultrasound Scan
Urodynamic Studies
Noninvasive Bladder Investigations.
Investigations Requiring Catheterization.
Uroneurophysiology
Electromyography
Sphincter EMG in the Evaluation of Suspected Cauda Equina Lesions.
Sphincter EMG in the Diagnosis of Multiple System Atrophy.
Sphincter EMG in the Investigation of Urinary Retention in Young Women.
Penilo-Cavernosus Reflex.
Pudendal Nerve Terminal Motor Latency (PNTML).
Pudendal Somatosensory Evoked Potentials.
Complications Arising from Neurogenic Bladder Dysfunction
Management of Neurogenic Bladder Dysfunction
General Measures
Voiding Dysfunction
Storage Dysfunction
Anti-Muscarinic Medications
Desmopressin
Botulinum Toxin
Peripheral Nerve Stimulation
Sacral Neuromodulation
Percutaneous Tibial Nerve Stimulation
Surgery
Nerve Root Stimulators
Permanent Indwelling Catheters
External Devices
Other Options
Beta-3-Receptor Agonists.
Cannabinoids.
Vanilloids.
Stepwise Approach to Neurogenic Bladder Dysfunction
Urinary Tract Infections
Management of Neurogenic Sexual Dysfunction
Management of Erectile Dysfunction
Management of Ejaculation Dysfunction
Sexual Dysfunction in Women
Management of Fecal Incontinence
References
Chapter 48: Sexual Dysfunctions in Neurological Disorders
Chapter Outline
The Neurophysiology of Human Sexual Response
The Neurophysiology of Male Sexual Response
Erection
Ejaculation
Orgasm
The Neurophysiology of Female Sexual Response
Anatomy of the Female Genitals
Arousal and Plateau Phase
Orgasm and Resolution
Brain Regulation of Sexual Responses
The Impact of Neurological Conditions on Sexual Function
Spinal Cord Lesions (SCL)
Primary Impact of SCL on Male Sexual Function
Erection.
Ejaculation.
Orgasm.
Primary Impact of SCL on Female Sexual Function
Arousal.
Orgasm.
Secondary Impact of SCL on Sexual Function
Tertiary Impact of SCL on Sexual Function
Multiple Sclerosis (MS)
Primary Impact of MS on Sexual Function
Secondary Impact of MS on Sexual Function
Tertiary Impact of MS on Sexual Function
Stroke
Primary Impact of Stroke on Sexual Function
Secondary Impact of Stroke on Sexual Function
Tertiary Impact of Stroke on Sexual Function
Traumatic Brain Injury (TBI)
Primary Impact of TBI on Sexual Function
Secondary Impact of TBI on Sexual Function
Tertiary Impact of TBI on Sexual Function
Parkinson Disease
Primary Impact of Parkinson Disease on Sexual Function
Secondary Impact of Parkinson Disease on Sexual Function
Tertiary Impact of Parkinson Disease on Sexual Function
Treatment Options for the Primary Impact of Neurological Conditions on Sexual Function
Treatments for Erectile Dysfunction
Natural Potential
Rehabilitation by Stimulation of the Bulbocavernous Reflex
Phosphodiesterase Inhibitors and Other Oral Treatments
Intracavernous Injections
Intra-Urethral Medication
Penile Rings and Vacuum Device
Penile Prostheses
Treatment of Ejaculation Disorders
Vibrostimulation
SSRI (Premature Ejaculation)
Treatments for Sexual Dysfunction in Women
Natural Potential and Lubricants
Rehabilitation by Kegel Exercises
Vacuum Device, Vibrostimulation and Sex Toys
Hormone and Other (Drug) Therapy
Phosphodiesterase Inhibitors
Treatment Options for Secondary Impact Consequences of Neurological Conditions on Sexual Function
Treatment Options for Tertiary Consequences of Neurological Conditions on Sexual Function
Conclusion
Acknowledgments
References
Chapter 49: Neuroepidemiology
Chapter Outline
Population-Based Rates
Cerebrovascular Disease
Mortality Rates
Morbidity Rates
Transient Ischemic Attacks
Primary Neoplasms
Mortality Rates and Survival
Morbidity Rates
Convulsive Disorders
Mortality Rates
Morbidity Rates
Febrile Seizures
Multiple Sclerosis
Mortality Rates and Survival
Morbidity Rates
Genetic Studies
Migration in Multiple Sclerosis
Migration in Multiple Sclerosis
Epidemics of Multiple Sclerosis
Epidemics of Multiple Sclerosis
Movement Disorders
Morbidity Rates
Mortality Rates
Selected Infections and Neurological Disease
Human Immunodeficiency Virus Infection
West Nile Virus Infection
West Nile Virus Infection
Neurocysticercosis
Neurocysticercosis
Overview of the Frequency of Neurological Disorders
References
Chapter 50: Clinical Neurogenetics
Chapter Outline
Genetics in Clinical Neurology
Gene Expression, Diversity, and Regulation
DNA to RNA to Protein
Types of Genetic Variation and Mutations
Rare versus Common Variation
Polymorphisms and Point Mutations
Structural Chromosomal Abnormalities and Copy Number Variation (CNV)
Repeat Expansion Disorders
Chromosomal Analysis and Abnormalities
Disorders of Mendelian Inheritance
Autosomal Dominant Disorders
Autosomal Recessive Disorders
Sex-Linked (X-Linked) Disorders
Mendelian Disease Gene Identification by Linkage Analysis and Chromosome Mapping
Non-Mendelian Patterns of Inheritance
Mitochondrial Disorders
Imprinting
Uniparental Disomy
Common Neurological Disorders and Complex Disease Genetics
Common Variants and Genome-Wide Association Studies
Rare Variants and Candidate Gene Resequencing
Copy Number Variation and Comparative Genomic Hybridization
Genome/Exome Sequencing in Clinical Practice and Disease Gene Discovery
Future Role of Systems Biology in Neurogenetic Disease
Environmental Contributions to Neurogenetic Disease
Genetics and the Paradox of Disease Definition
Clinical Approach to the Patient with Suspected Neurogenetic Disease
Evaluation and Diagnosis
Genetic Counseling
Prognosis and Treatment
References
Chapter 51: Neuroimmunology
Chapter Outline
Immune System
Adaptive and Innate Immunity
Principal Components of the Immune System
Monocytes and Macrophages
Natural Killer Cells
T Lymphocytes
T-Cell Receptors
B Lymphocytes
Immunoglobulins
Genetics of the Immune System
Antigen Receptor Gene Rearrangements
Major Histocompatibility and Human Leukocyte Antigens
Organization of the Immune Response
Initiation of the Immune Response
Antigen Presentation
Accessory Molecules for T-Cell Activation
CD3.
CD4 and CD8.
Costimulatory Molecules.
Cell Migration.
Accessory Molecules for B-Cell Activation
Regulation of the Immune Response
Cytokines
Chemokines
Termination of an Immune Response
B-Cell Inhibition
Immunoglobulin
T Cells
Self-Tolerance
Central Tolerance
Peripheral Tolerance
Anergy Due to Failure of T-Cell Activation
Apoptosis
Regulatory T Cells
Immune System and Central Nervous System
Immune Privilege in the Central Nervous System
Neuroglial Cells and the Immune Response
Putative Mechanisms of Human Autoimmune Disease
Genetic Factors
Environmental Factors
Neuroimmunological Diseases
Multiple Sclerosis
Acute Disseminated Encephalomyelitis
Neuromyelitis Optica
Immune-Mediated Neuropathies
Autoimmune Myasthenia Gravis
Inflammatory Muscle Diseases
Alzheimer Disease and Amyotrophic Lateral Sclerosis
Immune Response to Infectious Diseases
Tumor Immunology
Paraneoplastic Syndromes
Antibody-Associated Neurological Syndromes
Immunology of Central Nervous System Transplant
Summary
References
Chapter 52: Neuroendocrinology
Chapter Outline
Neuropeptides, Neurotransmitters, and Neurohormones
Neuropeptides and the Immune System
Nonendocrine Hypothalamus
Temperature Regulation
Fever
Drug-Induced Hyperthermia
Appetite
Emotion and Libido
Biological Rhythms
Endocrine Hypothalamus: The Hypothalamic–Pituitary Unit
Functional Anatomy
Blood Supply
Anterior Pituitary
Hypothalamic Control of Anterior Pituitary Secretion
Abnormalities of Anterior Pituitary Function
Hypofunction
Hyperfunction
Precocious Puberty.
Hyperprolactinemia.
Gigantism and Acromegaly.
Cushing Disease and Nelson Syndrome.
Excessive Secretion of Thyroid-Stimulating Hormone.
Gonadotropin-Secreting Tumors.
Pituitary Tumors and Pituitary Hyperplasia
Other Tumors
Hypophysitis
Posterior Pituitary
Physiology
Vasopressin
Oxytocin
Thirst and Drinking
Sodium Homeostasis and Atrial Natriuretic Peptide
Diabetes Insipidus
Etiology
Management
Syndrome of Inappropriate Antidiuretic Hormone Secretion
Etiology and Pathophysiology
Clinical Features
Treatment
Cerebral Salt Wasting
Approach to the Patient with Hypothalamic-Pituitary Dysfunction
History and Physical Examination
Assessment by Imaging Studies
Endocrinological Investigation
Treatment of Pituitary Tumors
Medical Management
Prolactinoma.
Cushing Disease.
Acromegaly.
Thyroid-Stimulating Hormone-Secreting and Gonadotropin-Secreting Tumors.
Surgery
Radiotherapy
Treatment of Hypopituitarism
Neuroendocrine Tumors
Pheochromocytomas
Carcinoid Tumors
References
Volume 2: Neurological Disorders and Their Management
Part III: Neurological Diseases and their Treatment
Section A: Principles of Management
Chapter 53: Management of Neurological Disease
Chapter Outline
Principles of Neurological Management
Evidence-Based Medicine in Neurology
Goals of Treatment
Arresting an Attack
Slowing Disease Progression
Relieving Symptoms
Circumventing Functional Disability
Principles of Symptom Management
Treatment of Common Neurological Symptoms
Pain
Sensory Loss, Paresthesias, and Burning Pain
Weakness
Ataxia
Slowness of Movement or Abnormal Involuntary Movements
Aphasia and Dysarthria
Respiratory Failure
Ethical Considerations in the Treatment of Respiratory Failure.
Managing Terminal Respiratory Failure.
Memory Impairment and Dementia
Treatment of Secondary Effects of Neurological Disease
Explaining the Prognosis
Palliation and Care of the Terminally Ill Patient
Genetic Counseling
Legal Issues
Implications for Clinical Practice
References
Chapter 54: Principles of Pain Management
Chapter Outline
Definition and Challenge
Anatomy and Physiology of the Pain Pathways
Central Modulation of Nociception
Opioid Receptors
Neuronal Plasticity and Chronic Pain
Multidisciplinary Approach to Pain Management
Pharmacological Management of Chronic Pain
Nonsteroidal Anti-inflammatory Drugs
Antidepressants
Anticonvulsants
Systemic Local Anesthetic Therapies
Topical Analgesics
Muscle Relaxants
N-Methyl-d-Aspartate Receptor Blockers
Opioid Analgesics
Interventional Pain Management
Greater Occipital Nerve Block
Sphenopalatine Ganglion Block for Headache and Facial Pain
Gasserian Ganglion Lesions for Trigeminal Neuralgia
Stellate Ganglion Block
Epidural Corticosteroid Injection
Lumbar Facet Joint Block
Percutaneous Disk Decompression
Spinal Cord Stimulation
Intrathecal Drug Delivery Systems
Motor Cortex Stimulation
Psychological Therapy in Chronic Pain Management
Rehabilitation in Chronic Pain Management
Common Pain Syndromes
Trigeminal Neuralgia
Low Back Pain
Cervicogenic Headache
Complex Regional Pain Syndrome
Post-Stroke Pain Syndrome
Spinal Cord Injury and Pain
Pain in Multiple Sclerosis
Phantom-Limb Pain and Stump Pain
Summary
References
Chapter 55: Principles of Neurointensive Care
Chapter Outline
Clinical Assessment of Critically Ill Neurological Patients
Monitoring in the Neurointensive Care Unit
Systemic Monitoring
Brain Monitoring
Global Brain Monitoring Techniques
Intracranial Pressure Monitoring
Jugular Bulb Oximetry
Electroencephalography
Regional/Focal Brain Monitoring Techniques
Regional Cerebral Blood Flow Monitoring
Transcranial Doppler Ultrasonography
Evoked Potentials
Local Cerebral Oxygenation Monitoring Techniques
Microdialysis
Principles of Managing Critically Ill Neurological Patients
Analgesia and Sedation
Airway and Ventilatory Assistance
Pulmonary Complications
Cardiovascular Care and Blood Pressure Management
Acute Coronary Syndrome
Cardiac Arrhythmias
Congestive Heart Failure
Blood Pressure Management
Acute Ischemic Stroke.
Intracerebral Hemorrhage.
Subarachnoid Hemorrhage.
Traumatic Brain Injury.
Fluid and Electrolytes
Nutrition and Metabolic Derangements
Fever and Infections
Hematological Complications
References
Chapter 56: Principles of Neurointerventional Therapy
Chapter Outline
Ischemic Stroke
Acute Stroke Treatment
Sonothrombolysis
Endovascular Revascularization Therapy
Intra-arterial Thrombolysis
Mechanical Recanalization
MR CLEAN, ESCAPE, EXTEND-IA, and SWIFT-PRIME Trials
Angioplasty and Stenting
Carotid Artery Disease
Carotid Artery Angioplasty and Stenting
Angioplasty and Stenting Procedure.
Clinical Trials.
Intracranial Atherosclerotic Disease
Intracranial Angioplasty
Intracranial Angioplasty and Stenting
Angioplasty/Stenting Procedure.
Clinical Trials.
Vertebral Artery Disease
Hemorrhagic Stroke
Cerebral Aneurysms
Ruptured Aneurysms
Unruptured Aneurysms
Endovascular Treatment Modalities
Coil Embolization.
Balloon Remodeling.
Stent-Assisted Coil Embolization.
Alternative Treatments
Management of Cerebral Vasospasm
Balloon Angioplasty
Intra-arterial Vasodilators
Cerebral Arteriovenous Malformations
Embolization Procedure
Polyvinyl Alcohol
n-Butyl Cyanoacrylate
Ethylene Vinyl Alcohol Copolymer
Stereotactic Radiotherapy
Cerebral Arteriovenous Fistulas
Cranial Dural Arteriovenous Fistulas
Carotid-Cavernous Fistulas
Spinal Vascular Malformations
Spinal Dural Arteriovenous Fistula (Type I)
Glomus Arteriovenous Malformation (Type II)
Juvenile/Metameric Arteriovenous Malformation (Type III)
Perimedullary Arteriovenous Malformation (Type IV)
Tumor Embolization
Embolization Procedure
Embolization Materials
Vessel Selection
Clinical Evidence
Idiopathic Intracranial Hypertension
References
Chapter 57: Neurological Rehabilitation
Chapter Outline
Goals and Structure of Rehabilitation
Aims
Personnel and Strategies
Physicians
Rehabilitation Nursing
Physical Therapists
Exercise and Compensatory Functional Training.
Conditioning and Strengthening.
Neurophysiological Schools.
Motor Learning Approaches.
Task-Oriented Practice.
Assistive Equipment.
Occupational Therapists
Speech and Cognitive Therapists
Recreational Therapists
Psychologists
Social Workers
Orthotists and Bracing
Measurement Tools
Organization of Services
Service Provision
Inpatient Rehabilitation Unit.
Community-Based Services.
Biological Bases for Rehabilitative Interventions
Neuromedical Problems during Rehabilitation
Frequency of Complications
Complications in Patients with Stroke
Complications in Patients with Spinal Cord Injury
Complications in Patients with Traumatic Brain Injury
Management of Neuromedical Problems
Dysphagia
Skin Ulcers
Contractures
Heterotopic ossification
Dysautonomia
Bowel and Bladder Dysfunction
Fatigue
Central Pain
Sleep Disorders
Spasticity and Upper Motor Neuron Syndrome
Mechanisms.
Assessments.
Treatment.
Physical Modalities.
Pharmacotherapy.
Chemical Injections.
Surgical Interventions.
Therapies for Impairments and Disabilities
Gait Training
Constraint-Induced Upper Extremity Therapy
Bimanual Upper Extremity Therapy
Virtual Reality Training
Mirror Therapy and Imagery
Instrumented Biofeedback
Acupuncture
Visual Field Deficits
Mechanical and Robotic-Assistive Devices
Upper Extremities
Mobility
Functional Neuromuscular Stimulation
Brain Stimulation
Neural Prostheses and Brain–Computer Interfaces
Pharmacological Adjuncts
Mobile Health and Wireless Sensing Devices
Therapies for Cognitive and Behavioral Disabilities
Overview of Cognitive Therapy
Aphasia
Treatments
Pharmacological Adjuncts
Outcomes
Apraxia
Attentional Disorders
Memory Disturbances
Frequency of Memory Disturbance across Diseases
Treatments
Pharmacological Adjuncts
Outcomes
Hemineglect
Frequency
Treatments
Behavioral Disorders
Affective Disorders
Incidence
Treatment
Functional Outcomes with Rehabilitation
Stroke
Ambulation
Self-Care Skills
Spinal Cord Injury
Traumatic Brain Injury
Parkinson Disease
Multiple Sclerosis
Other Diseases
Aging with Neurological Disabilities
Future Directions
References
Section B: Neurological Complications of Systemic Disease
Chapter 58: Neurological Complications of Systemic Disease: Adults
Chapter Outline
Cardiac Disorders and the Nervous System
Cardiogenic Embolism
Syncope
Cardiac Arrest
Complications of Cardiac Catheterization and Surgery
Neurological Complications of Medication
Infective Endocarditis
Diseases of the Aorta
Aortic Aneurysms
Aortitis
Coarctation of the Aorta
Subclavian Steal Syndrome
Complications of Aortic Surgery
Connective Tissue Diseases and Vasculitides
Polyarteritis Nodosa, Churg-Strauss Syndrome, and Overlap Syndrome
Giant Cell Arteritis
Granulomatosis with Polyangiitis
Isolated Angiitis of the Nervous System
Rheumatoid Arthritis
Systemic Lupus Erythematosus
Sjögren Syndrome
Progressive Systemic Sclerosis
Behçet Disease
Relapsing Polychondritis
Respiratory Diseases
Hypoxia
Hypercapnia
Hypocapnia
Systemic Inflammatory Response Syndrome
Sarcoidosis
Hematological Disorders with Anemia
Megaloblastic Anemia
Sickle Cell Disease
Thalassemias
Acanthocytic Syndromes
Proliferative Hematological Disorders
Leukemias
Plasma Cell Dyscrasias
Myelomatosis
Waldenström Macroglobulinemia
Monoclonal Gammopathy of Undetermined Significance
Amyloidosis
Cryoglobulinemia
Lymphoma
Polycythemia
Hemorrhagic Diseases
Hemophilia
Other Hemorrhagic Disorders
Disseminated Intravascular Coagulation
Thrombocytopenia
Thrombotic Thrombocytopenic Purpura
Iatrogenic Hemorrhagic Disorders
Antiphospholipid Antibody Syndromes
Liver Disease
Portal-Systemic Encephalopathy
Chronic NonWilsonian Hepatocerebral Degeneration
Liver Transplantation
Pancreatic Encephalopathy
Gastrointestinal Diseases
Gastric Surgery
Small-Bowel Disease
Celiac Disease
Whipple Disease
Renal Failure
Overview of Related Neurological Complications
Neurological Complications of Dialysis
Neurological Complications of Renal Transplantation
Electrolyte Disturbances
Sodium
Potassium
Calcium
Magnesium
Pituitary Disease
Pituitary Adenomas
Cushing Disease and Syndrome
Hypopituitarism
Diabetes Insipidus
Thyroid Disease
Hyperthyroidism
Hypothyroidism
Hashimoto Thyroiditis
Parathyroid Disease
Hyperparathyroidism
Hypoparathyroidism
Adrenal Glands
Pheochromocytoma
Addison Disease
Diabetes Mellitus
Peripheral Nervous System
Central Nervous System
Hypoglycemia
References
Chapter 59: Neurological Complications of Systemic Disease: Children
Chapter Outline
Cardiac Disorders and the Nervous System
Congenital Heart Disease
Cerebral Dysgenesis and Malformations
Chromosomal and Genetic Disorders
Neurological Complications Unrelated to Intervention and Cardiac Surgery
Cerebrovascular Accidents in Uncorrected Congenital Heart Disease
Brain Abscess
Infective Endocarditis
Cognitive Impairment
Neurological Complications of Intervention and Cardiac Surgery
Cardiac Transplantation
Acquired Heart Disease
Connective Tissue Diseases and Vasculitides
Polyarteritis Nodosa
Kawasaki Disease
Henoch-Schönlein Purpura
Takayasu Arteritis
Churg-Strauss Syndrome
Juvenile Rheumatoid Arthritis
Systemic Lupus Erythematosus
Granulomatosis with Polyangiitis (Wegener)
Behçet Disease
Sjögren Syndrome
Primary Angiitis of the Central Nervous System
Respiratory Disorders
Periodic Breathing and Apnea
Bronchopulmonary Dysplasia
Cystic Fibrosis
Sarcoidosis
Hypertension
Hematological Disorders
Hemolytic Disease of the Newborn and Kernicterus
Hemorrhagic Disease of the Newborn
Neonatal Polycythemia
Sickle Cell Disease
Hemophilia
Thrombotic Thrombocytopenic Purpura
Hemolytic-Uremic Syndrome
Gastrointestinal Disorders
Hepatic Encephalopathy
Liver Transplantation
Endocrine Disorders
Thyroid Disorders
Hypothyroidism
Hyperthyroidism
Parathyroid Disorders
Adrenal Gland Dysfunction
Addison Disease
Cushing Syndrome
Excess Mineralocorticoid Secretion
Pituitary Disorders
Diabetes Mellitus
Renal Disorders
Renal Failure
Complications of Dialysis
Headaches
Dialysis Disequilibrium Syndrome
Progressive Dialysis Dementia
Renal Transplantation
References
Section C: Trauma of the Nervous System
Chapter 60: Basic Neuroscience of Neurotrauma
Chapter Outline
Experimental Models of Traumatic Brain Injury
Percussion Concussion
Acceleration Concussion
Military Models
In Vitro Models
Neuronal Damage after Traumatic Brain Injury
Temporal Patterns of Neuronal Death
Selective Neuronal Vulnerability
Progressive Damage
Secondary and Repetitive Damage
Axonal and Dendritic Injury
Importance of Gender
Basic Mechanisms of Injury
Primary Injury Mechanisms
Secondary Injury Mechanisms
Therapeutic Interventions Directed Against Pathophysiological Processes
Glutamate Antagonists
Free Radical Scavengers
Neurotrophic Factors
Protection by Nitric Oxide-Related Species
Inflammation
Antiapoptotic Agents
Therapeutic Hypothermia
Recovery of Function
Environmental Enrichment
Reparative and Transplantation Strategies
Summary and Future Directions
References
Chapter 61: Sports and Performance Concussion
Chapter Outline
Epidemiology
Definition
Pathophysiology
Neurometabolic Cascade
Cerebral Blood Flow
Axonal Dysfunction
Synaptic Plasticity and Neural Activation
Diagnosis
In-Office/Outpatient Evaluation
Neuropsychological Testing
Neuroimaging
Acute and Subacute Management
Return to School, Work, or Cognitive Activity
Return to Physical Activity
Risk Involved with Premature Return to Participation
Long-Term Effects
Post-Concussion Syndrome (PCS)
Chronic Traumatic Encephalopathy
When to Retire an Athlete
Prevention
References
Chapter 62: Craniocerebral Trauma
Chapter Outline
Epidemiology
Classification
Mechanism
Injury Severity
Morphology
Skull Fractures
Intracranial Injuries
Pathophysiolgy
Treatment
Evaluation
Management of Diffuse Injuries
Management of Focal Injuries
Late Complications
Outcome
Future of TBI
References
Chapter 63: Spinal Cord Trauma
Chapter Outline
Epidemiology
Pathophysiology
Clinical Presentation
Spinal Cord Injury Syndromes
Central Cord Syndrome
Anterior Cord Syndrome
Posterior Column Syndrome
Brown–Séquard Syndrome
Cervicomedullary Syndrome
Conus Medullaris Syndrome
Cauda Equina Syndrome
Transient Spinal Cord Syndromes
Spinal Shock
Mechanisms and Types of Injuries
Cervical Spine Fractures
Atlanto-occipital Dissociation
Occipital Condyle Fractures
Atlantoaxial Injuries
Subaxial Cervical Spine Injuries
Thoracolumbar Injuries
Penetrating Spinal Cord Injuries
Management of Acute Spinal Cord Injuries
Management in the Field
Initial Hospital Assessment
Radiographic Evaluation
Current Guidelines
Plain Radiography
Computed Tomography
Magnetic Resonance Imaging
SCIWORA
Treatment of Spinal Cord Injuries in the Acute Setting
Cardiovascular Management in the Intensive Care Unit Setting
Respiratory Management in the Intensive Care Unit Setting
Medical Management
Nutritional Support
Stabilization and Support
Nonsurgical Management
Surgical Management
Long-Term Management of Spinal Cord Injuries
Spinal Cord Injury and Bladder Function
Spinal Cord Injury and Bowel Function
Delayed Post-traumatic Spinal Cord Syndromes
Post-traumatic Syringomyelia
Neuropathic Pain
Spasticity
Autonomic Dysreflexia
Deep Vein Thrombosis and Thromboembolism in Spinal Cord Injury
Future Directions
References
Chapter 64: Trauma of the Nervous System: Peripheral Nerve Trauma
Chapter Outline
Anatomy of the Spinal Nerves of the Peripheral Nervous System
Axon
Peripheral Nerve Trunks
Classification of Nerve Trauma
Peripheral Nerve Degeneration and Regeneration
Segmental Demyelination
Wallerian Degeneration
Distal Segment Changes
Proximal Segment
Nerve Regeneration
Mechanisms of Traumatic Nerve Injury
Compression
Stretch and Traction
Laceration
Crush
Gunshot
Radiation
Cold Injury
Electrical
Injection
Evaluation of Nerve Trauma
Clinical and Electrodiagnostic Examination
Imaging Studies
Surgical Repair of Nerve Trauma
Indications for and Timing of Surgical Repair
Intraoperative Nerve Monitoring
Surgical Techniques
Neurolysis (External and Internal)
Primary Neurorrhaphy
Nerve Grafting
Nerve Transfer
Management of Neuropathic Pain Associated with Nerve Trauma
Pharmacological Options
Interventional Strategies
Movement Disorders after Nerve Trauma
Future Directions in Treatment of Nerve Trauma
References
Section D: Vascular Diseases of the Nervous System
Chapter 65: Ischemic Cerebrovascular Disease
Chapter Outline
Epidemiology and Risk Factors
Risk Factors for Stroke
Heredity and Risk of Stroke
Common Modifiable Risk Factors
Other Risk Factors for Stroke
Pathophysiology of Cerebral Ischemia
Pathology of Ischemic Stroke
Clinical Syndromes of Cerebral Ischemia
Transient Ischemic Attacks
Carotid Artery System Syndromes
Carotid Artery Syndromes
Middle Cerebral Artery Syndromes
Syndromes of the Anterior Cerebral Artery and Related Blood Vessels
Lacunar Syndromes
Vertebrobasilar System Syndromes
Posterior Cerebral Artery Syndromes
Syndromes of Thalamic Infarction
Watershed Ischemic Syndromes
Diagnosis and Treatment of Threatened Ischemic Stroke
Large-Artery Atherothrombotic Infarctions
Small-Vessel or Penetrating Artery Disease
Cardiogenic Embolism
Nonatherosclerotic Vasculopathies
Dissections
Trauma
Radiation Vasculopathy
Moyamoya
Fibromuscular Dysplasia
Inflammatory Vasculitides
Infections and Stroke
Drug Abuse and Stroke
Stroke and Systemic Vasculitides
Migraine and Stroke
Inherited and Miscellaneous Disorders
Hypercoagulable Disorders
Primary Hypercoagulable States
Secondary Hypercoagulable States
Sickle Cell Disease
Thrombotic Thrombocytopenic Purpura
Infarcts of Undetermined Cause
Essential Investigations for Patients with Threatened Strokes
Neuroimaging
Cardiac Evaluation of the Stroke Patient
Cerebral Angiography
Preventing Stroke Recurrence: Medical Therapy
Platelet Antiaggregants
Oral Anticoagulants
Treatment of Acute Ischemic Stroke
Heparins and Heparinoids
Thrombolytic Therapy
Defibrinogenating and Hemorheological Agents
Neuroprotective Agents
Hypothermia
Surgical Therapy
Symptomatic Carotid Artery Stenosis
Asymptomatic Carotid Artery Stenosis
Stenting of the Carotid Artery and Other Cervicocerebral Vessels
General Management of Acute Ischemic Stroke
Cerebral Venous Thrombosis
References
Chapter 66: Intracerebral Hemorrhage
Chapter Outline
Mechanisms of Intracerebral Hemorrhage
Hypertension
Vascular Malformations
Intracranial Tumors
Bleeding Disorders, Anticoagulants, and Fibrinolytic Treatment
Cerebral Amyloid Angiopathy
Granulomatous Angiitis of the Central Nervous System and Other Vasculitides
Sympathomimetic Agents
Hemorrhagic Infarction
Head Trauma
Clinical Features of Intracerebral Hemorrhage
Putaminal Hemorrhage
Caudate Hemorrhage
Thalamic Hemorrhage
Lobar Hemorrhage
Cerebellar Hemorrhage
Pontine Hemorrhage
Mesencephalic Hemorrhage
Medullary Hemorrhage
Intraventricular Hemorrhage
Treatment of Intracerebral Hemorrhage
General Management of Intracerebral Hemorrhage
Initial Evaluation
General Measures for Prevention of Further Elevation of Intracranial Pressure
Specific Treatment of Increased Intracranial Pressure
Choice between Medical and Surgical Therapy in Intracerebral Hemorrhage
Hemostatic Therapy of Intracerebral Hemorrhage
References
Chapter 67: Intracranial Aneurysms and Subarachnoid Hemorrhage
Chapter Outline
Epidemiology
Associated Conditions
Pathophysiology
Saccular Aneurysm
Fusiform Aneurysm
Dissecting Aneurysm
Natural History of Intracranial Aneurysms
Imaging Modalities and Diagnosis
Subarachnoid Hemorrhage
Symptoms
Treatment of Incidental Intracranial Aneurysms
Open Surgical Treatment
Endovascular Treatment
Management of Subarachnoid Hemorrhage
Endovascular and Surgical Treatment of Ruptured Aneurysms
Vasospasm and Delayed Cerebral Ischemia
References
Chapter 68: Stroke in Children
Chapter Outline
Stroke and the Developing Cerebrovascular System
Epidemiology
Full-Term and Near-Term Neonates
The General Population of Children
High-Risk Subgroups
Presentations
Etiology
Cardiac
Hematological
Trauma and Vascular Compression
Infection
Vascular Malformations/Vasculopathy/Migraine
Drugs/Toxins
Metabolic
Gender and Ethnicity
Genetic
Differential Diagnosis
Evaluation
History and Physical
Imaging Studies
Coagulation Workup
Cardiac Evaluation
Other Studies
Treatment
The Acute Period and Initiating Chronic Therapy
Additional Issues in Chronic Therapy
Other Issues
Summary
References
Chapter 69: Spinal Cord Vascular Disease
Chapter Outline
Vascular Anatomy of the Spinal Cord
Vascular Anatomy of the Spinal Cord
Intrinsic Spinal Cord Arterial Supply
Venous Drainage
Spinal Cord Infarction
Presentation and Initial Course
Examination Findings
Investigations
Course and Prognosis
Causes of Spinal Cord Infarction
Treatment
Spinal Vascular Malformations
Distribution and Prevalence
Clinical Presentation and Course
Investigations
Treatment
Spinal Cavernous Malformation
Spinal Hemorrhage
Subarachnoid Hemorrhage
Hematomyelia
Spinal Epidural and Subdural Hemorrhage
References
Chapter 70: Central Nervous System Vasculitis
Chapter Outline
Types of Central Nervous System Vasculitis
Isolated Central Nervous System Vasculitis
Clinical Findings
Pathology
Laboratory Findings
Approach to Diagnosis
Therapy
Central Nervous System Vasculitis Associated with Other Disorders
Cutaneous Herpes Zoster Infection
Drug Abuse
Lymphoma
Amyloid
References
Section E: Cancer and the Nervous System
Chapter 71: Epidemiology of Brain Tumors
Chapter Outline
Classification
Descriptive Epidemiology
Incidence
Mortality and Prognostic Factors
Gender and Race
Temporal Trends
Geographical Trends and Migrant Studies
Primary Central Nervous System Lymphoma
Analytical Epidemiology
Study Designs
Methodological Challenges
Radiation
Ionizing Radiation
Electromagnetic Field Radiation
Radiofrequency and Cellular Telephone
Occupational Studies
Head Trauma
N-Nitroso Compounds
Vitamins
Tobacco and Alcohol
Tea and Coffee
Infections, Allergies and Immunity
Genetic Syndromes
Genetic Susceptibility
Summary
References
Chapter 72: Pathology and Molecular Genetics
Chapter Outline
General Principles of Nervous System Tumor Biology
History of Nervous System Tumor Classification Schemes
General Histopathological Features and Techniques
General Histopathological Features
Anaplasia
Tumor Grading
Palisading
Rosettes
Desmoplasia
Microvascular Proliferation
Frozen Sections and Touch Imprints/Smears
Electron Microscopy (Ultrastructural Pathology)
Immunohistochemistry
Glial Markers
Neuronal Markers
Epithelial Markers
S100 Protein
Other Useful Immunomarkers
Methods of Assessing Cell Proliferation
Molecular Diagnostics
Primary Neuroepithelial Tumors
Diffuse Astrocytoma (WHO Grade II–III)
Oligodendroglioma (WHO Grade II–III)
Oligoastrocytoma (WHO Grade II–III)
Glioblastoma (WHO Grade IV)
Molecular Characteristics of Diffuse Gliomas
Circumscribed (“Favorable Prognosis”) Neuroepithelial Tumors
Pilocytic Astrocytoma (WHO Grade I)
Pleomorphic Xanthoastrocytoma (WHO Grade II or III)
Subependymal Giant Cell Astrocytoma (WHO Grade I)
Ganglioglioma/Gangliocytoma (WHO Grade I or II)
Dysembryoplastic Neuroepithelial Tumor (WHO Grade I)
Other Glioneuronal Tumors
Central Neurocytoma (WHO Grade II)
Ependymoma (WHO Grade II or III)
Myxopapillary Ependymoma (WHO Grade I)
Subependymoma (WHO Grade I)
Choroid Plexus Tumors
Choroid Plexus Papilloma (WHO Grade I)
Choroid Plexus Carcinoma (WHO Grade III)
Embryonal Tumors/Primitive Neuroectodermal Tumors
Medulloblastoma (WHO Grade IV)
Atypical Teratoid/Rhabdoid Tumor (WHO Grade IV)
Meningeal/Extra-axial Tumors
Meningioma (WHO Grade I)
Atypical Meningioma (WHO Grade II)
Anaplastic Meningioma (WHO Grade III)
Molecular Features of Meningioma
Hemangiopericytoma and Solitary Fibrous Tumor (WHO Grade II or III)
Nerve Sheath Tumors
Schwannoma (Neurilemoma) (WHO Grade I)
Neurofibroma (WHO Grade I)
Miscellaneous Tumors
Central Nervous System Lymphoma
Germ Cell Tumors
Hemangioblastoma (WHO Grade I)
Craniopharyngioma (WHO Grade I)
Epidermoid and Dermoid Cysts
Neuroenteric, Colloid, and Rathke Cleft Cysts
Lipomas
Metastatic Tumors
Acknowledgments
References
Chapter 73: Clinical Features of Brain Tumors and Complications of Their Treatment
Chapter Outline
Clinical Features of Brain Tumors
Overview of Symptoms
Specific Symptoms and Signs
Focal Symptoms
Focal Motor Symptoms.
Ataxia.
Aphasia.
Visual Problems.
Seizures.
Generalized Symptoms
Headaches.
Nausea and Vomiting.
Syncope.
Mental Status and Behavioral Changes.
Complications of Brain Tumor Treatment
Surgery
Radiation
Chemotherapy and Biologic Therapy
References
Chapter 74: Primary Nervous System Tumors in Adults
Chapter Outline
General Aspects
Established Treatment Strategies
Surgery
Radiation Therapy
Conventional Fractionated Radiotherapy.
Brachytherapy.
Sensitization of Tumor Cells to Ionizing Radiation.
Stereotactic Radiosurgery Techniques.
Chemotherapy
Standard Cytotoxic Chemotherapy.
Delivery Strategies.
New Treatment Strategies
Management of Specific Brain Tumors
Neuroepithelial Tumors
Astrocytic Tumors
Noninfiltrative Tumors
Pilocytic Astrocytoma.
Pleomorphic Xanthoastrocytoma.
Subependymal Giant Cell Astrocytoma.
Neuroepithelial Tumors of Unknown Origin: Chordoid Glioma of the Third Ventricle.
Infiltrative Low-Grade Astrocytomas.
High-Grade Astrocytomas
Anaplastic Astrocytoma.
Glioblastoma Multiforme.
Others
Gliomatosis Cerebri.
Oligodendroglial Tumors
Oligodendroglioma and Oligoastrocytoma.
Anaplastic Oligodendroglioma and Anaplastic Oligoastrocytoma.
Ependymal Tumors
Ependymoma and Anaplastic Ependymoma.
Subependymoma.
Choroid Plexus Tumors
Choroid Plexus Papilloma and Carcinoma.
Neuronal and Mixed Neuronal-Glial Tumors
Ganglioglioma and Gangliocytoma.
Central Neurocytoma.
Pineal Parenchymal Tumors
Peripheral Neuroblastic Tumors
Esthesioneuroblastoma.
Embryonal Tumors
Medulloblastoma.
Supratentorial Primitive Neuroectodermal Tumors.
Tumors of Cranial and Peripheral Nerves
Schwannoma and Neurofibroma
Malignant Peripheral Nerve Sheath Tumor
Meningeal Tumors
Meningioma
Hemangiopericytoma
Neuraxis Tumors Derived from the Hematopoietic System
Primary Central Nervous System Lymphoma
NonAIDS Related Disease.
AIDS-Related PCNSL.
Germ Cell Tumors
Germinoma
Nongerminomatous Germ Cell Tumors
Tumors of the Sellar Region
Craniopharyngioma
Pituitary Adenoma
References
Chapter 75: Primary Nervous System Tumors in Infants and Children
Chapter Outline
Pediatric Primary Nervous System Tumors
Embryonal Tumors
Medulloblastoma and Central Nervous System Primitive Neuroectodermal Tumor
Background
Etiology
Clinical Presentation
Diagnosis
Management
Prognosis
Atypical Teratoid/Rhabdoid Tumor
Background
Clinical Presentation
Diagnosis
Management and Prognosis
Astrocytic Tumors
Pilocytic Astrocytoma
Background
Clinical Presentation
Diagnosis
Management
Prognosis
Optic Pathway Glioma
Background
Clinical Presentation
Diagnosis and Management
Prognosis
Subependymal Giant Cell Astrocytoma
Background
Clinical Presentation
Diagnosis and Management
Prognosis
Diffuse Astrocytoma
Background
Clinical Presentation
Diagnosis and Management
Prognosis
Diffuse Intrinsic Pontine Glioma
Background
Clinical Presentation
Diagnosis and Management
Prognosis
Pleomorphic Xanthoastrocytoma
Background
Clinical Presentation
Diagnosis and Management
Prognosis
Anaplastic Astrocytoma and Glioblastoma
Background
Clinical Presentation
Diagnosis and Management
Prognosis
Neuronal and Mixed Neuronal-Glial Tumors
Ganglioglioma
Clinical Presentation
Diagnosis and Management
Prognosis
Desmoplastic Infantile Astrocytoma or Ganglioglioma
Dysembryoplastic Neuroepithelial Tumor
Background
Clinical Presentation
Diagnosis and Management
Prognosis
Central Neurocytoma
Background
Diagnosis and Management
Prognosis
Other Central Nervous System Tumors
Oligodendroglioma
Background
Management
Prognosis
Ependymoma
Background
Clinical Presentation
Diagnosis
Management
Prognosis
Germ Cell Tumor
Background
Clinical Presentation
Diagnosis and Management
Prognosis
Craniopharyngioma
Background
Clinical Presentation
Diagnosis and Management
Prognosis
Choroid Plexus Tumors
Background
Clinical Presentation
Diagnosis and Management
Prognosis
Treatment-Related Complications in Infants and Children with Primary Nervous System Tumors
Surgery
Radiation Therapy
Chemotherapy
Summary
References
Chapter 76: Nervous System Metastases
Chapter Outline
Brain Metastases
Epidemiology
Pathophysiology and Pathology
Clinical Presentations
Differential Diagnosis
Neuroimaging
Management
Supportive Care
Radiation Therapy
Radiation Toxicity.
Prophylactic Cranial Irradiation.
Surgery
Multiple Metastases
Radiation Therapy
Whole-Brain Radiotherapy
Stereotactic Radiosurgery
Fractionated Stereotactic Radiotherapy
Treatment Paradigms
Treatment Options for Recurrent Brain Metastases
Re-Irradiation.
Chemotherapy.
Spinal Cord Compression
Pathophysiology and Pathology
Clinical Presentation
Differential Diagnosis
Neuroimaging
Management
Corticosteroids
Radiotherapy
Surgery
Surgery with Radiation Therapy
Chemotherapy
Intramedullary Spinal Metastases
Skull and Dural Metastases
Skull Metastases
Leptomeningeal Metastases
Epidemiology
Pathogenesis
Clinical Features
Diagnostic Tests
Cerebrospinal Fluid Examination
Neuroimaging
Diagnosis
Treatment
Surgery
Radiation Therapy
Intrathecal Chemotherapy
Systemic and Hormonal Therapy
Prognosis
Plexus Metastases
Brachial Plexopathy
Lumbosacral Plexopathy
Peripheral Nerve Metastases
References
Section F: Infections of the Nervous System
Chapter 77: Neurological Manifestations of Human Immunodeficiency Virus Infection in Adults
Chapter Outline
Epidemiology and Current Trends
HIV Genome, Replication, and Molecular Heterogeneity of HIV
Natural History of HIV Infection and Neuro-HIV Disease
Primary Infection and Dissemination of Virus
Chronic Persistent HIV Infection
Advanced HIV Disease
Neuropathogenesis of HIV Disease
Antiretroviral Therapy and Its Effect on Neuro-HIV Disease
Clinical Spectrum of Neuro-HIV Disease
Major HIV-Associated Neurological Syndromes
Diffuse Disorders of the Meninges and Brain
Aseptic HIV Meningitis
HIV-Associated Neurocognitive Disorders
Clinical Features.
Neuropsychological Tests.
Neuroimaging.
Cerebrospinal Fluid Analysis.
Management.
Cryptococcal Meningitis
Neurosyphilis
Cytomegalovirus Encephalitis, and Ventriculoencephalitis
Other Meningitis and Meningoencephalitis Syndromes
Focal CNS Disorders
Cerebral Toxoplasmosis
Progressive Multifocal Leukoencephalopathy
Primary CNS Lymphoma
Stroke
Other Focal CNS Disorders
HIV-Associated Vacuolar Myelopathy (VM)
HIV-Associated Neuromuscular Disorders
Neuropathies
Distal Sensory Polyneuropathy
Nucleoside Analog-Associated Toxic Neuropathy
Inflammatory Demyelinating Polyradiculoneuropathies
Lumbosacral Polyradiculomyelitis
Other Neuropathies and Neuronopathies
Myopathies
References
Chapter 78: Viral Encephalitis and Meningitis
Chapter Outline
Deoxyribonucleic Acid Viruses
Herpesviruses
Herpes Simplex Viruses Type 1 and 2
Herpes Simplex Encephalitis.
Neonatal Herpes Simplex Virus Meningoencephalitis.
Herpes Simplex Virus Meningitis.
Varicella-Zoster Virus
Primary Infection.
Herpes Zoster.
Cytomegalovirus
Congenital Cytomegalovirus.
Cytomegalovirus in Immunocompromised Adults.
Epstein–Barr Virus
Human Herpesvirus Type 6
Herpes B Virus (Cercopithecine Herpesvirus 1)
Herpes B Virus (Cercopithecine Herpesvirus 1)
Polyomaviruses (JC) and Progressive Multifocal Leukoencephalopathy
Adenovirus
Parvovirus
Orthopoxviruses
Orthopoxviruses
Monkeypox
Smallpox and Smallpox Vaccination
Ribonucleic Acid Viruses
Poliovirus and Other Nonpolio Enteroviruses
Poliovirus
Nonpolio Enteroviruses
Meningitis.
Meningoencephalitis.
Enterovirus-68 Associated Poliomyelitis-Like Illness.
Epidemic Conjunctivitis and Acute Motor Neuron Disease
Enterovirus 71
Arboviruses
West Nile Virus (Flavivirus)
St. Louis Encephalitis Virus (Flavivirus)
Japanese Encephalitis Virus (Flavivirus)
California Serogroup of Viruses (Bunyaviruses)
Equine Encephalitis Viruses (Alphaviruses)
Colorado Tick Fever Virus (Coltivirus) and Banna Virus (Seadornavirus)
Powassan Virus (Flavivirus)
Murray Valley Encephalitis Virus (Australian X Disease; Flavivirus)
Murray Valley Encephalitis Virus (Australian X Disease; Flavivirus)
Tickborne Encephalitis Virus (Flavivirus)
Tickborne Encephalitis Virus (Flavivirus)
Rift Valley Fever Virus (Phlebovirus)
Rift Valley Fever Virus (Phlebovirus)
Toscana Virus (Phlebovirus)
Rabies
Australian Bat Lyssavirus
Australian Bat Lyssavirus
Chandipura Virus “Encephalitis”
Chandipura Virus “Encephalitis”
Measles
Acute Encephalitis and Postviral Encephalomyelitis
Measles Inclusion Body Encephalitis
Subacute Sclerosing Panencephalitis
Mumps
Rubella
Henipaviruses
Hendra Virus
Hendra Virus
Nipah Virus
Influenza
Arenaviruses
Other Hemorrhagic Fever Viruses
Arboviral Agents of Hemorrhagic Fevers
Dengue (Flavivirus).
Yellow Fever (Flavivirus).
Filoviruses
Filoviruses.
Hepatitis Viruses
References
Chapter 79: Bacterial, Fungal and Parasitic Diseases of the Nervous System
Chapter Outline
Bacterial Infections of the Central Nervous System
Meningitis
Etiology
Clinical Presentation
Diagnosis
Management
Brain Abscess
Clinical Presentation
Diagnosis
Management
Spinal Epidural Abscess
Etiology
Clinical Presentation
Diagnosis
Management
Fungal Infections of the Central Nervous System
Meningitis
Etiology
Clinical Presentation
Diagnosis
Management
Multi-state outbreak of E. rostratum meningitis
Brain Abscess
Etiology
Clinical Presentation
Diagnosis
Management
Parasitic Infections of the Central Nervous System
Acute Meningitis
Etiology and Clinical Presentation
Diagnosis
Management
Chronic Meningitis and Encephalitis
Etiology and Clinical Presentation
Diagnosis
Management
Focal Lesions
Etiology and Clinical Presentation
Diagnosis
Management
Prevention
Summary
References
Section G: Neurological Disorders
Chapter 80: Multiple Sclerosis and Other Inflammatory Demyelinating Diseases of the Central Nervous System
Chapter Outline
Pathophysiology
Pathology
Etiology
Autoimmunity
Genetics
Infection
Vitamin D
Smoking
Epidemiology
Age of Onset
Sex Distribution
Geographical and Racial Distribution
Mortality
Clinical Symptoms and Physical Findings
Cranial Nerve Dysfunction
Impairment of Visual Pathways
Impairment of Ocular Motor Pathways
Impairment of Other Cranial Nerves
Impairment of Sensory Pathways
Impairment of Motor Pathways
Impairment of Cerebellar Pathways
Impairment of Bladder, Bowel, and Sexual Functions
Fatigue
Cognitive Impairment
Affective Disorders
Symptoms Particularly Characteristic of MS
Diagnosis
Diagnostic Criteria
The McDonald Criteria
Diagnostic Studies
Magnetic Resonance Imaging
Lesion Differentiation Based on MRI Appearance.
High-Field Strength MRI.
Brain Atrophy.
Spinal Cord Imaging.
Cerebrospinal Fluid Analysis
Optic Coherence Tomography
Evoked Potentials
Clinical Course and Prognosis
Clinically Isolated Syndrome
Predictive Value of MRI in Conversion to Clinically Definite Multiple Sclerosis
Radiographically Isolated Syndrome
Measures of Disability
Effect of Exogenous Factors on the Course
Pregnancy in Multiple Sclerosis
Prognosis
Variants of Multiple Sclerosis
Tumefactive Multiple Sclerosis
Marburg Variant
Balo Concentric Sclerosis
Differential Diagnosis
Treatment and Management
Treatment of Acute Attacks
Disease-Modifying Therapy
Injectable Agents
Interferons.
Glatiramer Acetate.
Infusion Therapies
Natalizumab.
Alemtuzumab.
Oral Therapies
Fingolimod.
Teriflunomide.
Dimethyl Fumarate (BG-12).
Treatment Strategies and Goals of Therapy
Treatment of Progressive Disease
Symptomatic Treatment
Spasticity
Gait and Ambulatory Dysfunction
Tremor
Fatigue
Bladder Dysfunction
Depression
Sexual Dysfunction
Cognitive Impairment
Paroxysmal Symptoms
Other Inflammatory Demyelinating Diseases of the Central Nervous System
Acute Disseminated Encephalomyelitis
Postvaccination Acute Disseminated Encephalomyelitis
Parainfectious Acute Disseminated Encephalomyelitis
Clinical Features
Laboratory and Radiologic Features
Acute Hemorrhagic Leukoencephalitis
Treatment
Neuromyelitis Optica
Site-Restricted Forms of Demyelinating Disorders
Transverse Myelitis
Isolated Optic Neuritis
Chronic Relapsing Inflammatory Optic Neuropathy (CRION)
References
Chapter 81: Paraneoplastic Disorders of the Nervous System
Chapter Outline
Pathogenesis
General Diagnostic Approach
Specific PNSs and Their Treatment
Paraneoplastic Cerebellar Degeneration
Clinical Findings
Tumor Association
Immune Responses
Treatment
Paraneoplastic Encephalomyelitis
Clinical Findings
Tumor Association
Immune Responses
Treatment
Limbic and Brainstem Encephalitis
Clinical Findings
Tumor Association
Immune Responses
Treatment
Paraneoplastic Opsoclonus-Myoclonus
Clinical Findings
Tumor Association
Immune Responses
Treatment
Stiff-Person Syndrome
Clinical Findings
Tumor Association
Immune Responses
Treatment
Paraneoplastic Sensory Neuronopathy
Clinical Findings
Tumor Association
Immune Responses
Treatment
Vasculitis of the Nerve
Clinical Findings
Tumor Association
Immune Responses
Treatment
Subacute and Chronic Peripheral Neuropathies
Clinical Findings
Tumor Association
Immune Responses
Treatment
Peripheral Neuropathy Associated with Plasma Cell Dyscrasias and B-Cell Lymphoma
Lambert–Eaton Myasthenic Syndrome
Clinical Findings
Tumor Association
Immune Responses
Treatment
Myasthenia Gravis
Clinical Findings
Tumor Association
Immune Responses
Treatment
Dermatomyositis
Clinical Findings
Tumor Association
Immune Responses
Treatment
Acute Necrotizing Myopathy
Clinical Findings
Tumor Association
Immune Responses
Treatment
Paraneoplastic Visual Syndromes
Clinical Findings
Tumor Association
Immune Responses
Treatment
References
Chapter 82: Autoimmune Encephalitis with Antibodies to Cell Surface Antigens
Chapter Outline
Specific Syndromes
Anti-NMDAR Encephalitis
Anti-GABAB Receptor Encephalitis
Anti-AMPA Receptor Encephalitis
Anti-LGI1 Limbic Encephalitis
Anti-CASPR2 Associated Encephalitis
Anti-GABAA Receptor Encephalitis
Anti-DPPX Encephalitis
Encephalitis with Antibodies to IgLON5
Stiff-Person Spectrum Disorder and Antibodies to Glycine Receptors
Other Disorders
General Treatment Recommendations
References
Chapter 83: Anoxic-Ischemic Encephalopathy
Chapter Outline
Pathophysiological Concepts
Clinical Examination
Management
Approach to Prediction of Prognosis
Laboratory and Electrophysiological Testing
Neuroimaging
References
Chapter 84: Toxic and Metabolic Encephalopathies
Chapter Outline
Clinical Manifestations
Toxic Encephalopathies
Hepatic Encephalopathy
Laboratory Evaluations
Pathophysiology
Cerebral Blood Flow and Glucose Metabolism
Role of Ammonia
Other Pathophysiological Mechanisms
Astrocyte Swelling and the Role of Concomitant Disorders.
Abnormalities of Neurotransmission.
Fatty Acids.
Mercaptans.
Manganese.
Neuropathology
Treatment
Lactulose.
Amino Acids.
Antibiotics.
Complications and Prognosis
Acute Liver Failure
Uremic Encephalopathy
Twitch Convulsive Syndrome
Restless Leg Syndrome
Wernicke Encephalopathy
Mild Cognitive Impairment/Dementia in Chronic Renal Disease
CNS Symptoms Associated with Dialysis Therapy
Dialysis Dysequilibrium Syndrome
Dialysis Encephalopathy
Metabolic Disturbances
Disorders of Glucose Metabolism
Physiology
Glucose Homeostasis.
Cerebral Glucose Metabolism.
Clinical Aspects of Hypoglycemia
Clinical Aspects of Hyperglycemia
Complications of Treatment
Disorders of Water and Electrolyte Metabolism
Disordered Osmolality
Osmotic Homeostasis.
Hypo-osmolality and Hyponatremia.
Clinical Features.
Therapy.
Hyperosmolality.
Disorders of Calcium Metabolism
Disorders of Magnesium Metabolism
Disorders of Manganese Metabolism
References
Chapter 85: Deficiency Diseases of the Nervous System
Chapter Outline
Cobalamin (Vitamin B12)
Causes of Deficiency
Clinical Features
Laboratory Studies
Pathology
Treatment
Folate Deficiency and Homocysteine
Causes of Deficiency
Clinical Features
Laboratory Studies
Treatment
Vitamin E
Clinical Features
Laboratory Studies
Treatment
Pellagra (Nicotinic Acid Deficiency)
Vitamin B6 (Pyridoxine)
Thiamine
Thiamine Deficiency Neuropathy (Beriberi)
Infantile Beriberi
Wernicke–Korsakoff Syndrome
Laboratory Studies
Pathology
Treatment
Other Diseases Associated with Alcoholism
Alcohol-Withdrawal Syndromes
Alcoholic Neuropathy
Clinical Features
Laboratory Studies and Pathology
Treatment
Tobacco–Alcohol or Nutritional Amblyopia
Marchiafava–Bignami Disease
Alcoholic Cerebellar Degeneration
Vitamin A
Vitamin D
Miscellaneous Deficiency Diseases
Complications after Bariatric Surgery
Copper Deficiency
Strachan Syndrome and Related Disorders
Protein-Calorie Malnutrition
References
Chapter 86: Effects of Toxins and Physical Agents on the Nervous System
Chapter Outline
Occupational Exposure to Organic Chemicals
Acrylamide
Allyl Chloride
Carbon Disulfide
Carbon Monoxide
Ethylene Oxide
Hexacarbon Solvents
Methyl Bromide
Organochlorine Pesticides
Organophosphates
Pyrethroids
Pyriminil
Solvent Mixtures
Styrene
Toluene
Trichloroethylene
Occupational Exposure to Metals
Aluminum
Arsenic
Lead
Manganese
Mercury
Tellurium
Thallium
Tin
Effects of Ionizing Radiation
Encephalopathy
Myelopathy
Plexopathy
Effects of Nonionizing Radiation
Electric Current and Lightning
Vibration
Hyperthermia
Hypothermia
Burns
Neurotoxins of Animals and Insects
Snakes
Spiders
Scorpions
Tick Paralysis
Neurotoxins of Plants and Fungi
Jimson Weed
Poison Hemlock
Water Hemlock
Peyote
Morning Glory
Medicinal Herbs
Excitatory Amino Acids
Mushroom Poisoning
Marine Neurotoxins
Ciguatera Fish Poisoning
Puffer Fish Poisoning
Shellfish Poisoning
Paralytic Shellfish Poisoning
Neurotoxic Shellfish Poisoning
Amnestic Shellfish Poisoning
References
Chapter 87: Effects of Drug Abuse on the Nervous System
Chapter Outline
Drugs of Dependence
Opioids
Psychostimulants
Sedatives
Marijuana
Hallucinogens
Inhalants
Phencyclidine
Anticholinergics
Neurological Complications
Trauma
Infection
Seizures
Stroke
Cognitive Effects
Fetal Effects
Miscellaneous Effects
References
Chapter 88: Brain Edema and Disorders of Cerebrospinal Fluid Circulation
Chapter Outline
Blood–Brain Interfaces
Cerebral Blood Vessels and the Neurovascular Unit
Production of Cerebrospinal Fluid and Interstitial Fluid
Water Molecules: Basis for Magnetic Resonance Imaging
Anatomical Sites of Central Nervous System Infection
Gap Junctions on Ependymal and Pial Surfaces
Arachnoid Granulations and Absorption of Cerebrospinal Fluid
Cerebrospinal Fluid Pressure
Composition of the Cerebrospinal Fluid
Brain Edema
Molecular Cascade in Injury
Neuroinflammation and Vasogenic Edema
Cytotoxic Brain Edema
Effect of Blood Pressure and Osmolality Changes on Brain Edema
Edema in Venous Occlusion and Intracerebral Hemorrhage
High Altitude Cerebral Edema
Treatment of Brain Edema
Idiopathic Intracranial Hypertension
Clinical Features
Treatment
Brain Edema in Idiopathic Intracranial Hypertension
Hydrocephalus
Hydrocephalus in Children
Adult-Onset Hydrocephalus
Normal-Pressure Hydrocephalus
Acknowledgments
References
Chapter 89: Developmental Disorders of the Nervous System
Chapter Outline
Embryological and Fetal Development of the Nervous System
Neurulation
Disorders of Neurulation (1 to 4 Weeks’ Gestation)
Mitotic Proliferation of Neuroblasts (Neuronogenesis)
Disorders of Neuronogenesis
Programmed Cell Death (Apoptosis)
Disorders of Programmed Cell Death
Neuroblast Migration
Major Mechanisms of Neuroblast Migration: Radial Glial Fiber Guides and Tangential Migration along Axons
Disorders of Neuroblast Migration
Architecture of the Cortical Plate
Fissures and Sulci of Cortical Structures
Disorders of Fissures and Sulci
Growth of Axons and Dendrites
Disorders of Neurite Growth
Electrical Polarity of the Cell Membrane
Disorders of Membrane Polarity
Synaptogenesis
Disorders of Synaptogenesis
Biosynthesis of Neurotransmitters
Disorders of Neurotransmitter Synthesis
Myelination
Disorders of Myelination
Cajal-Retzius Neurons and Subplate Neurons of the Fetal Brain
Etiology of Central Nervous System Malformations
Ischemic Encephalopathy in the Fetus
Molecular Genetic Classification of Malformations of the Nervous System
Clinical Expression of Selected Malformations of the Nervous System
Disorders of Symmetry and Cellular Lineage
Hemimegalencephaly
Disorders of Neurulation (1 to 4 Weeks’ Gestation)
Anencephaly (Aprosencephaly with Open Cranium)
Cephalocele (Encephalocele; Exencephaly)
Meningomyelocele (Spinal Dysraphism, Spina Bifida Cystica)
Congenital Aqueductal Stenosis
Midline Malformations of the Forebrain (4 to 8 Weeks’ Gestation)
Holoprosencephaly
Isolated Arhinencephaly and Kallmann Syndrome
Septo-Optic-Pituitary Dysplasia
Rhombomeric Deletions and Ectopic Genetic Expression
Agenesis of the Corpus Callosum
Colpocephaly
Disorders of Early Neuroblast Migration (8 to 20 Weeks’ Gestation)
Lissencephaly (Agyria, Sometimes with Pachygyria)
Miller-Dieker Syndrome (Type 1 Lissencephaly).
Walker-Warburg And Related Syndromes (Type 2 Lissencephaly).
X-Linked Recessive Lissencephaly with Abnormal Genitalia.
Subcortical Laminar Heterotopia (Band Heterotopia) and Bilateral Periventricular Nodular Heterotopia
Schizencephaly
Disturbances of Late Neuroblast Migration (after 20 Weeks’ Gestation)
Disturbances of Late Neuroblast Migration (after 20 Weeks’ Gestation)
Disorders of Cerebellar Development (32 Days’ Gestation to 1 Year Postnatally)
Disorders of Cerebellar Development (32 Days’ Gestation to 1 Year Postnatally)
Selective Vermal Aplasia
Selective Cerebellar Hemispheric Aplasia
Dandy-Walker Malformation
Chiari Malformation
Global Cerebellar Hypoplasia
Focal Cerebellar Dysplasia
References
Chapter 90: Autism and Other Developmental Disabilities
Chapter Outline
Autism Spectrum Disorders
Diagnostic Criteria
Epidemiology
Clinical Features
Diagnosis
Evaluation
Medical Comorbidities
Epilepsy
Etiology
Genetics.
Neuropathology.
Management
Prognosis
Intellectual Disability
Clinical Features
Diagnosis and Etiology
Management
Cerebral Palsy
Clinical Features
Diagnosis and Etiology
Prevention and Management
Learning Disabilities
Dyslexia
Clinical Features
Diagnosis and Etiology
Management
Nonverbal Learning Disabilities
Clinical Features
Diagnosis and Etiology
Management
Developmental Coordination Disorders
Diagnosis
Comorbid Conditions
Evaluation and Etiology
Treatment
Dyscalculia
Clinical Features
Evaluation and Etiology
Management
Attention Deficit Hyperactivity Disorder
Clinical Features
Evaluation and Etiology
Management
References
Chapter 91: Inborn Errors of Metabolism and the Nervous System
Chapter Outline
General Considerations
Diagnostic Approach
Mutation Analysis
Special Considerations
Inborn Errors of Metabolism Associated with Hearing Abnormalities
Inborn Errors of Metabolism Associated with Abnormal Brain Development and Encephaloclastic Lesions
Neuroimaging
Imminent Death Prior to Diagnosis in a Child with a Suspected Inborn Error of Metabolism
Management Considerations Following Diagnosis
Adolescent with an Inborn Error of Metabolism and Transition to Adulthood
Animal Models of Human Inborn Errors of Metabolism
Disorders Involving Complex Molecules
Lysosomal Storage Disorders
Neuronal Ceroid Lipofuscinoses
Peroxisomal Disorders
Disorders Involving Small Molecules
Disorders of Amino and Organic Acid Metabolism
Hyperammonemia
Disorders of Energy Metabolism
Glycogen Storage Diseases
Disorders of Glycolysis and Gluconeogenesis
Fatty Acid Oxidation Defects
Disorders of Ketogenesis and Ketolysis
Other Subclassifications of IEM
Disorders of Cholesterol and Lipoprotein Metabolism
Disorders of Metals (Copper, Zinc, Iron)
Disorders of Polyol Metabolism, including Galactose and Fructose
Disorders Associated with Vitamin Metabolism
Congenital Disorders of Glycosylation (CDG)
Disorders of Purine and Pyrimidine Metabolism
Porphyrias
Neurotransmitter Inborn Errors of Metabolism
Disorders of Glycine and Serine Metabolism
Creatine Deficiency Syndromes
Acknowledgement
References
Chapter 92: Neurodegenerative Disease Processes
Chapter Outline
Where Do Neurodegenerative Disorders Begin?
Mechanisms of Cell Loss in Neurodegeneration
Conclusion
Acknowledgments
References
Chapter 93: Mitochondrial Disorders
Chapter Outline
Genetics of Mitochondrial Disorders
Maternal Inheritance of Mitochondrial DNA
Heteroplasmy and Mitotic Segregation of Mitochondrial DNA
Threshold Effect of Mitochondrial DNA Mutations
Pathophysiology of Mitochondrial Disorders
Approach to the Diagnosis of Mitochondrial Disorders
Laboratory Findings
Neuro-ophthalmology
Neuroradiology
Muscle Biopsy
Histochemistry
Electron Microscopy
Biochemistry
Blue Native Polyacrylamide Gel Electrophoresis
DNA-Based Diagnosis
Mitochondrial Clinical Syndromes
Progressive External Ophthalmoplegia and Kearns–Sayre Syndrome
Mitochondrial Myopathies without Progressive External Ophthalmoplegia
Mitochondrial Peripheral Neuropathy
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Myoclonic Epilepsy with Ragged-Red Fiber Myopathy
Mitochondrial Neurogastrointestinal Encephalomyopathy
Neuropathy, Ataxia, Retinitis Pigmentosa Syndrome
Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome)
Leber Hereditary Optic Neuropathy
Sensorineural Deafness
Mitochondrial DNA Depletion Syndrome
Management of Mitochondrial Diseases
Treatment of Associated Complications
Hearing and Vision
Seizures
Movement Disorders
Diabetes
Respiratory
Gastrointestinal
Heart
Genetic Counseling, Prenatal Diagnosis, and Reproductive Options
Pharmacological Approaches
Coenzyme Q10 Deficiency
Other Pharmacological Approaches
Removal or Neutralization of Toxic Metabolites
Enzyme and Metabolite Replacement
Thymidine Phosphorylase Replacement Therapy
l-Arginine Therapy in MELAS
Folate Deficiency
Carnitine Deficiency
Gene Therapy
Resistance Exercise Training to Shift mtDNA Genotype
Other Gene Therapy Approaches for mtDNA Mutations
Mitochondrial Dysfunction in Neurodegenerative Disease
Mitochondrial Dysfunction and Parkinson Disease (PD)
Mitochondrial Dysfunction and Alzheimer Disease
Mitochondrial Dysfunction and Huntington Disease
Other Neurodegenerative Diseases
References
Chapter 94: Prion Diseases
Chapter Outline
Human Prion Diseases
Epidemiology
History of Creutzfeldt–Jakob Disease Nomenclature
What are Prions?
Clinical Aspects of Human Prion Diseases
Sporadic Prion Disease
Molecular Classification of Sporadic Creutzfeldt–Jakob Disease
Diagnosis of Creutzfeldt–Jakob Disease
Diagnostic Tests for Sporadic Creutzfeldt–Jakob Disease
Development of a Prion-Specific Diagnostic Test
Genetic Prion Disease
Familial Creutzfeldt–Jakob Disease
Gerstmann–Sträussler–Scheinker Disease
Fatal Familial Insomnia
Acquired Creutzfeldt–Jakob Disease
Prion Decontamination
Animal Prion Diseases
Treatments of Human Prion Diseases
Differential Diagnosis
References
Chapter 95: Alzheimer Disease and other Dementias
Chapter Outline
Normal Aging and Mild Cognitive Impairment
Normal Aging
Preclinical Stage of Dementia
Mild Cognitive Impairment (MCI)
Subjective Cognitive Impairment
Dementia
Dementia Epidemiology
Diagnostic Approach
History
Medical History.
Family History.
Medications.
Neuropsychiatric History.
Cognitive Assessment
General Neurological Examination
Laboratory Evaluation
Neuroimaging
DSM-V
Alzheimer Disease
Background
Alzheimer Epidemiology
Prevalence
Incidence
Societal Cost and Future Projections
Risk Factors
Hypertension.
Diabetes and elevated glucose.
Head injury.
Others.
Protective Factors
Education/Leisure Activities/Early Life Cognitive Abilities.
Exercise.
Diet.
Alzheimer Clinical Features
Early Presentation
Pattern of Progression
Common Clinical Features
Atypical Alzheimer Disease
Posterior Cortical Atrophy
Logopenic Aphasia
Frontal Variant AD
Others
Neuropsychiatric Features of AD Dementia
Diagnostic Criteria
Neuropsychology in AD Dementia
Biomarkers in AD
CSF Biomarkers
Neuroimaging Biomarkers
Structural Imaging.
Cerebral Amyloid Angiopathy.
Functional Imaging.
Amyloid Imaging.
Task-Free Functional MRI.
Tau Imaging.
Longitudinal Tracking of Biomarkers
Genetics
Alzheimer Genetics
Early Onset Genes
Amyloid Precursor Protein (APP) Chromosome 21.
Presenilin 1 (PSEN1) Chromosome 14.
Presenilin 2 (PSEN2) Chromosome 1.
Late Onset Genes
Genetic Testing
Alzheimer Pathophysiology
Amyloid Hypothesis
Alzheimer Pathology
Amyloid Plaques
Neurofibrillary Tangles
Clinicopathologic Correlations
Cholinergic loss
Neuropathologic criteria
TDP-43 (TAR DNA-binding protein 43)
Alzheimer Pathology in Aging and MCI
Hippocampal Sparing AD
Treatment
Acetylcholinesterase Inhibitors
N-Methyl-d-aspartate Receptor Antagonist
Vitamin E
Estrogen Replacement Therapy
Anti-inflammatory Medications
Treatment of Noncognitive Symptoms in AD
Patient Safety
Driving
Medication Supervision
Other Safety Issues
The Future Treatment of Alzheimer Disease
Neurodegenerative Dementias Associated with Parkinsonism
Synucleinopathies
Dementia with Lewy Bodies
Prodromal DLB.
Mild Cognitive Impairment due to DLB.
Epidemiology.
Clinical Features.
Parkinsonism.
Cognitive Fluctuations.
Hallucinations.
REM Sleep Behavior Disorder (RBD).
Neuroleptic Sensitivity.
Autonomic Dysfunction.
Other Neuropsychiatric Symptoms.
Falls.
Neuropsychology.
Laboratory Studies.
Genetics.
Neuroimaging in DLB.
Structural MRI.
Amyloid Imaging in DLB.
FDG-PET in DLB.
Dopamine Transport (DAT) Scan.
Myocardial Iodine-131-meta-iodobenzylguanidine.
Pathology.
Treatment.
Cognitive Symptoms
Acetylcholinesterase Inhibitor Drugs.
Parkinsonism
Dopaminergic Therapy.
Neuropsychiatric Features.
Antipsychotics.
Autonomic symptoms.
Sleep disorders.
Parkinson Disease Dementia (PDD)
Multiple System Atrophy (MSA)
Evaluation.
Neuroimaging.
Genetics.
Pathology.
Treatment.
Tauopathies
Corticobasal Degeneration (CBD)/Corticobasal Syndrome (CBS)
Pathology.
Treatment.
Progressive Supranuclear Palsy
Frontotemporal Dementias
Nomenclature
Diagnostic Criteria
FTD Epidemiology
Clinical Presentation
Behavioral Variant FTD
Primary Progressive Aphasias
Progressive Agrammatic/(Nonfluent) Aphasia.
Semantic Variant PPA.
Amnestic Syndromes
Frontotemporal Dementia with Motor Neuron Disease (FTD-MND)
Expanded FTD Syndromes
Neuroimaging
Structural MRI
Functional imaging
PiB-PET
Laboratory Evaluation
Genetics
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 (FTD-P 17)
MAPT Mutations.
Progranulin (PGRN) Mutations.
Chromosome 9 Open Reading Frame 72
Pathology
Clinicopathologic Correlations
Pathophysiology
TDP-43.
Microtubule-Associated Protein Tau.
Progranulin.
Chromosome 9 Open Reading Frame 72.
TMEM106B.
FTD Treatment
Vascular Dementia (Vascular Cognitive Impairment)
History
Diagnostic Criteria
Epidemiology
Vascular Risk Factors
Subtypes
Clinical Presentation
Large-Vessel Stroke
Strategic Infarcts
Multi-infarct Dementia (MiD)
Dementia after Stroke
Cerebral Small-Vessel Disease
White Matter Hyperintensity
Lacunar Stroke
Cerebral Amyloid Angiopathy
Microinfarcts
Mixed Pathology
CADASIL
Neuropsychological Testing
Treatment
Symptomatic Treatment
Normal Pressure Hydrocephalus
Gait Disturbance
Cognitive Disorder
Urinary Incontinence
Assessing Comorbidities
Neuroimaging
Confirmatory Diagnostic Tests
Biomarkers
Biopsy Studies
Diagnostic Criteria
Chronic Traumatic encephalopathy (CTE)/ Post-traumatic Dementia
Other Causes
Autoimmune or Paraneoplastic Dementia
Other Nondegenerative Dementias
Rapidly Progressive Dementias
Young Onset Dementia
References
Chapter 96: Parkinson Disease and Other Movement Disorders
Chapter Outline
Movement Disorders and the Basal Ganglia
Basal Ganglia Anatomy
Functional Organization of the Basal Ganglia and Other Pathways
Biochemistry
Mechanisms of Neurodegeneration
Parkinsonian Disorders
Parkinson Disease
Epidemiology
Clinical Features
Pathology
Etiology
Treatment
Neuroprotective or Disease-Modifying Therapies for Parkinson Disease.
Symptomatic Treatment of Parkinson Disease.
Surgical Treatment of Parkinson Disease.
Multiple System Atrophy
Progressive Supranuclear Palsy
Corticobasal Degeneration
Dementia with Lewy Bodies
Frontotemporal Degeneration with Parkinsonism
Parkinsonism–Dementia Complex of Guam
Guadeloupean Parkinsonism
Vascular Parkinsonism
Bilateral Striatopallidodentate Calcification (Fahr Disease)
Postencephalitic Parkinsonism
Drug-Induced Parkinsonism
Toxin-Induced Parkinsonism
Tremor
Physiological Tremor
Essential Tremor
Epidemiology and Clinical Features
Etiology
Treatment
Primary Writing Tremor
Orthostatic Tremor
Neuropathic Tremor
Cerebellar Tremor
Hereditary Geniospasm (Chin Tremor)
Fragile X Premutation
Chorea
Huntington Disease
Epidemiology
Clinical Features
Pathology
Pathogenesis
Treatment
Dentatorubral-Pallidoluysian Atrophy
Neuroacanthocytosis and McLeod Syndrome
Benign Hereditary Chorea
Sydenham Disease and Other Autoimmune Choreas
Ballism
Senile Chorea
Tardive Dyskinesia
Tardive Dystonia
Dystonia
Childhood-Onset Generalized Primary Dystonia
Epidemiology and Clinical Features
Pathology
Pathogenesis
Treatment
Adult-Onset Primary Focal and Segmental Dystonia
Epidemiology and Clinical Features
Pathogenesis
Treatment
X-linked Dystonia-Parkinsonism (DYT3; Lubag)
Dopa-Responsive Dystonia (DYT5)
Myoclonus Dystonia (DYT11)
Rapid-Onset Dystonia Parkinsonism (DYT12)
Wilson Disease (Hepatolenticular Degeneration)
Clinical Features
Pathology
Pathogenesis
Treatment
Neurodegeneration with Brain Iron Accumulation
Post-traumatic Dystonia and Peripherally Induced Movement Disorders
Paroxysmal Movement Disorders
Tics
Tourette Syndrome
Clinical Features
Pathogenesis
Treatment
Myoclonus
Essential Myoclonus
Posthypoxic Myoclonus (Lance-Adams Syndrome)
Startle and Hyperekplexia
Palatal Myoclonus
Spinal Myoclonus
Toxin- and Drug-Induced Myoclonus
Miscellaneous Movement Disorders
Hemifacial Spasm
Painful Legs–Moving Toes Syndrome
Stiff Person Syndrome
Psychogenic Movement Disorders
References
Chapter 97: Disorders of the Cerebellum, Including the Degenerative Ataxias
Chapter Outline
Acquired Ataxias
Hypothyroidism
Toxic Causes
Alcohol
Chemotherapeutic Agents
Heavy Metals
Solvents
Anticonvulsants
Infectious and Transmissible Diseases
Autoimmune Causes
Paraneoplastic Cerebellar Degeneration
Ataxia with Gluten Sensitivity
Ataxia and Anti-Glutamic Acid Decarboxylase Antibodies
Other Immune Mediated Ataxias
Superficial Siderosis
Inherited Ataxias
Autosomal Recessive Cerebellar Ataxias (ARCA)
Friedreich Ataxia
Clinical Features.
The Friedreich Ataxia Mutation.
Point Mutations.
Pathogenesis.
Treatment.
Mitochondrial Recessive Ataxia Syndrome
Infantile-Onset Spinocerebellar Ataxia (IOSCA)
Ataxia with Isolated Vitamin E Deficiency
Abetalipoproteinemia
Cayman Ataxia
Ataxia-Telangiectasia
Clinical Features.
Mutation and Pathogenesis.
Laboratory Diagnosis.
Treatment.
Ataxia–Telangiectasia-like Disorder
Ataxia with Oculomotor Apraxia Type 1 (AOA 1)
Ataxia with Oculomotor Apraxia Type 2 (AOA 2)
Other DNA Repair Defects Causing Ataxia
Autosomal Recessive Ataxia of Charlevoix-Saguenay (ARSACS)
Marinesco-Sjögren Syndrome
Autosomal Recessive Cerebellar Ataxia Type 1(ARCA 1)
Autosomal Recessive Cerebellar Ataxia Type 2 (ARCA 2)
Childhood and Young Adult–Onset Metabolic Disorders in Which Ataxia Can Be Prominent
Mitochondrial Diseases and Ataxia
Autosomal Dominant Ataxias
Clinical Features of Spinocerebellar Ataxias
Clinical Features of Episodic Ataxias
Imaging and Other Laboratory Studies in Dominant Ataxias
Neuropathology
Gene Mutations and Phenotype-Genotype Correlations in Dominant Ataxias
Spinocerebellar Ataxia Type 1.
Spinocerebellar Ataxia 2.
Machado-Joseph Disease.
Spinocerebellar Ataxia 4.
Spinocerebellar Ataxia 5.
Spinocerebellar Ataxia 6.
Spinocerebellar Ataxia 7.
Spinocerebellar Ataxia 8.
Spinocerebellar Ataxia 10.
Spinocerebellar Ataxia 11.
Spinocerebellar Ataxia 12.
Spinocerebellar Ataxia 13.
Spinocerebellar Ataxia 14.
Spinocerebellar Ataxia 15 and 16.
Spinocerebellar Ataxia 17.
Spinocerebellar Ataxia 18.
Spinocerebellar Ataxia 19 and 22.
Spinocerebellar Ataxia 20.
Spinocerebellar Ataxia 21.
Spinocerebellar Ataxia 23.
Spinocerebellar Ataxia 25.
Spinocerebellar Ataxia 26.
Spinocerebellar Ataxia 27.
Spinocerebellar Ataxia 28.
Spinocerebellar Ataxia 29.
Spinocerebellar Ataxia 30.
Spinocerebellar Ataxia 31.
Spinocerebllar Ataxia 32.
Spinocerebellar Ataxia 34.
Spinocerebellar Ataxia 35.
Spinocerebellar Ataxia 36.
Dentatorubral Pallidoluysian Atrophy.
Episodic Ataxias
Pathogenesis of Dominant Ataxias
X-Linked Ataxias
Inherited Ataxias of Unknown Origin
Sporadic Ataxias
Sporadic Cortical Cerebellar Atrophy
Sporadic Ataxia with Added Noncerebellar Deficits
Clinical Approach to Patients with Progressive Cerebellar Ataxia
References
Chapter 98: Disorders of Upper and Lower Motor Neurons
Chapter Outline
Disorders of Upper Motor Neurons
Neuroanatomy of Upper Motor Neurons
Motor Cortex
Corticospinal and Corticobulbar Tracts.
Brainstem Control.
Limbic Motor Control.
Signs and Symptoms of Upper Motor Neuron Involvement
Loss of Dexterity
Loss of Muscle Strength (Weakness)
Spasticity
Pathological Hyper-reflexia and Pathological Reflexes
Pseudobulbar (Spastic Bulbar) Palsy
Laboratory Evidence of Upper Motor Neuron Involvement
Neuroimaging
Magnetic Resonance Spectroscopy Imaging
Transcranial Magnetic Stimulation
Primary Lateral Sclerosis
Diagnosis
Treatment
Hereditary Spastic Paraplegia
Diagnosis
Treatment
Human T-Lymphotropic Virus Type 1-Associated Myelopathy, or Tropical Spastic Paraparesis
Human T-Lymphotropic Virus Type 2-Associated Myelopathy
Adrenomyeloneuropathy
Plant Excitotoxins
Lathyrism
Konzo
Disorders of Lower Motor Neurons
Neuroanatomy of Lower Motor Neurons
Interneurons
Lower Motor Neurons
Clinical Features of Lower Motor Neuron Involvement
Loss of Muscle Strength (Weakness)
Muscle Atrophy and Hyporeflexia.
Muscle Hypotonicity or Flaccidity.
Fasciculations
Muscle Cramps
Laboratory Evidence of Lower Motor Neuron Involvement
Electrodiagnostic Examination
Muscle Biopsy
Acute Poliomyelitis
Clinical Features
Laboratory Features
Differential Diagnosis
Treatment
Vaccination
Postpolio Syndrome/Progressive Postpoliomyelitis Muscular Atrophy
Etiology
Clinical Features
Laboratory Features
Diagnosis
Treatment
West Nile Virus
Multifocal Motor Neuropathy
Benign Focal Amyotrophy
Differential Diagnosis
Treatment
Spinal Muscular Atrophy
Clinical Features
Spinal Muscular Atrophy Type 1, Infantile Form (Werdnig-Hoffmann Disease).
Spinal Muscular Atrophy Type 2, Intermediate Form (Chronic Spinal Muscular Atrophy).
Spinal Muscular Atrophy Type 3, Juvenile Form (Kugelberg-Welander Disease).
Spinal Muscular Atrophy Type 4, Adult-Onset.
Laboratory Studies
Differential Diagnosis
Treatment
Genetic Counseling and Prenatal Diagnosis
Kennedy Disease (X-Linked Recessive Bulbospinal Neuronopathy)
Pathogenesis
Clinical Features
Laboratory Studies
Differential Diagnosis
Manifesting Carrier
Treatment
Progressive Muscular Atrophy
Etiology
Clinical Features
Laboratory Studies
Differential Diagnosis
Treatment
Subacute Motor Neuronopathy in Lymphoproliferative Disorders
Postirradiation Lower Motor Neuron Syndrome
Disorders of Both Upper and Lower Motor Neurons
Amyotrophic Lateral Sclerosis
Pathology
Etiology
Protein Aggregation.
Glutamate Excitotoxicity and Free Radical Injury.
Immunological and Inflammatory Abnormalities.
Mitochondrial Dysfunction.
Neurofilament and Microtubule Dysfunction.
Aberrant RNA Processing.
Clinical Features
Atypical Features
Natural History of the Disease
Prognosis
Laboratory Studies
Diagnosis
Differential Diagnosis
Treatment
Presentation of the Diagnosis of Amyotrophic Lateral Sclerosis.
Specific Pharmacotherapy.
Aggressive Symptomatic Treatment.
Multidisciplinary Team Approach at Amyotrophic Lateral Sclerosis Clinic.
Physical Rehabilitation.
Speech and Communication Management.
Nutritional Care.
Respiratory Care.
Home Care and Hospice Care.
Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis–Parkinsonism-Dementia Complex (Western Pacific Amyotrophic Lateral Sclerosis)
Spinocerebellar Ataxia Type 3 (Machado-Joseph disease)
Adult Hexosaminidase-A Deficiency
Allgrove Syndrome (Four-A Syndrome)
Adult Polyglucosan Body Disease
Paraneoplastic Motor Neuron Disease
Human Immunodeficiency Virus Type 1-Associated Motor Neuron Disorder
References
Chapter 99: Channelopathies: Episodic and Electrical Disorders of the Nervous System
Chapter Outline
Ion Channels
Genetic Disorders of Muscular Ion Channels
Hypokalemic Periodic Paralysis
Clinical
Pathophysiology
Diagnosis
Treatment
Hyperkalemic Periodic Paralysis
Clinical
Pathophysiology
Diagnosis
Treatment
Paramyotonia Congenita
Clinical
Pathophysiology
Diagnosis
Treatment
Myotonia Congenita
Clinical
Pathophysiology
Diagnosis
Treatment
Potassium-Aggravated Myotonia
Clinical
Pathophysiology
Diagnosis
Treatment
Andersen–Tawil Syndrome
Clinical
Pathophysiology
Diagnosis
Treatment
Malignant Hyperthermia
Congenital Myasthenic Syndromes
Genetic Disorders of Neuronal Ion Channels
Familial Hemiplegic Migraine
Clinical
Pathophysiology
Diagnosis
Treatment
Familial Episodic Ataxias
Clinical
Pathophysiology
Diagnosis
Treatment
Hereditary Hyperekplexia
Clinical
Pathophysiology
Diagnosis
Treatment
Hereditary Peripheral Nerve Disorders
Paroxysmal Dyskinesia
Other Inherited Neuronal Channelopathies
Epilepsy
Familial Focal Epilepsies
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Familial Temporal Lobe Epilepsies
Idiopathic Generalized Epilepsies
Benign Familial Neonatal Seizures
Generalized Epilepsy with Febrile Seizures Plus
SCN2A Mutation and Other Early Childhood Seizures
Juvenile Myoclonic Epilepsy
Childhood Absence Epilepsy
Theoretical Considerations
Autoimmune Channelopathies
Myasthenia Gravis
Lambert–Eaton Myasthenic Syndrome
Acquired Neuromyotonia (Isaacs Syndrome)
Paraneoplastic Cerebellar Degeneration
Limbic Encephalitis
Summary
References
Chapter 100: Neurocutaneous Syndromes
Chapter Outline
Tuberous Sclerosis
Cutaneous Features
Neurological Features
Retinal Features
Systemic Features
Cardiac
Renal
Pulmonary
Neurofibromatosis
Cutaneous Features of Neurofibromatosis Type 1
Systemic Features of Neurofibromatosis Type 1
Neurological Features in Neurofibromatosis Type 1
Clinical Features of Neurofibromatosis Type 2
Sturge-Weber Syndrome
Cutaneous Features
Ocular Features
Neurological Features
Diagnostic Studies
Treatment
Von Hippel-Lindau Syndrome
Neurological Features
Ocular Features
Systemic Features
Molecular Genetics
Treatment
Hereditary Hemorrhagic Telangiectasia
Neurological Features
Treatment
Hypomelanosis of Ito
Cutaneous Features
Neurological Features
Systemic Features
Incontinentia Pigmenti
Cutaneous Features
Neurological Features
Genetics
Ataxia-Telangiectasia
Cutaneous Features
Neurological Features
Immunodeficiency and Cancer Risk
Laboratory Diagnosis
Epidermal Nevus Syndrome
Cutaneous Features
Neurological Features
Other Features
Neuroimaging
Neurocutaneous Melanosis
Cutaneous Features
Neurological Features
Laboratory Findings
Neuroimaging
Ehlers-Danlos Syndrome
Neurovascular Features
Cerebrotendinous Xanthomatosis
Neurological Features
Xanthomas
Other Clinical Features
Treatment
Progressive Facial Hemiatrophy
Clinical Features
Kinky Hair Syndrome (Menkes Disease)
Cutaneous Features
Other Clinical Features
Neurological Features
Neuroimaging
Genetic Studies
Diagnosis and Treatment
Xeroderma Pigmentosum
Complementation Groups
Related Syndromes
Cutaneous and Ocular Features
Treatment
Other Neurological Conditions with Cutaneous Manifestations
References
Chapter 101: Epilepsies
Chapter Outline
Seizures and Epilepsy Definitions
Ictal Phenomenology
Glossary of Seizure Terminology and Other Definitions
Classification of Seizures
Other Seizure Terminology
Seizure Types
Partial Seizures (Focal Seizures)
Simple Partial Seizures (Focal Seizures without Impairment of Consciousness or Awareness)
Complex Partial Seizures (Focal Seizures with Impairment of Consciousness or Awareness or Dyscognitive Seizures)
Partial Seizures Evolving to Generalized Tonic-Clonic Activity (Focal Seizure Evolving to a Bilateral, Convulsive Seizure (Involving Tonic, Clonic, or Tonic and Clonic Components))
Partial (Focal) Seizure Semiology in Relation to Localization
Partial (Focal) Seizures of Temporal Lobe Origin.
Partial (Focal) Seizures of Frontal Lobe Origin.
Partial (Focal) Seizures Originating in the Parietal Lobe.
Partial (Focal) Seizures Originating in the Occipital Lobe.
Partial (Focal) Seizures Originating in the Insular Cortex
Generalized Seizures
Generalized Absence Seizures
Generalized Myoclonic Seizures
Generalized Clonic Seizures
Generalized Tonic Seizures
Epileptic Spasms
Generalized Tonic-Clonic Seizures
Generalized Atonic Seizures
Generalized-Onset Seizures with Focal Evolution
Classification of Epilepsies and Epileptic Syndromes
Epileptic Syndromes and Constellations
Benign Familial Neonatal Epilepsy
Early Myoclonic Encephalopathy and Ohtahara Syndrome
West Syndrome
Dravet Syndrome
Genetic Epilepsy with Febrile Seizures Plus
Panayiotopoulos Syndrome
Epilepsy with Myoclonic Atonic Seizures (Myoclonic Astatic Epilepsy or Doose Syndrome)
Benign Epilepsy with Centrotemporal Spikes
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Late-Onset Childhood Occipital Epilepsy (Gastaut Type)
Epilepsy with Myoclonic Absences
Lennox-Gastaut Syndrome
Epileptic Encephalopathy with Continuous Spike-and-Wave during Sleep and Landau Kleffner Syndrome
Childhood Absence Epilepsy
Juvenile Absence Epilepsy
Juvenile Myoclonic Epilepsy
Epilepsy with Generalized Tonic-Clonic Seizures Alone
Autosomal Dominant Epilepsy with Auditory Features
Familial Mesial Temporal Lobe Epilepsy
Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis
Rasmussen Syndrome
Progressive Myoclonus Epilepsies
Gelastic Seizures with Hypothalamic Hamartoma
Febrile Seizures
Causes and Risk Factors
Head Trauma
Vascular Malformations
Brain Tumors
Parasitic Infections
Stroke
Inflammatory and Autoimmune Disorders
Other Risk Factors
Causes of Acute Symptomatic Seizures
Seizure Precipitants
Epidemiology of Epilepsy and Seizures
Descriptive Epidemiology
Epidemiology of the First Unprovoked Seizure
Morbidity and Mortality
Morbidity and Comorbidity
Mortality in Epilepsy
Pathophysiology and Mechanisms
Generalized Seizures
Physiology
Histopathology
Molecular Pathology
Mesial Temporal Lobe Seizures
Physiology
Histopathology
Molecular Pathology
Neocortical Focal Seizures (NFS)
Physiological Abnormalities
Molecular Pathophysiology
Differential Diagnosis
Psychogenic Nonepileptic Seizures
Syncope
Migraine
Sleep Disorders
Paroxysmal Movement Disorders
Evaluation and Diagnosis
Evaluation of Recent-Onset Seizures and Epilepsy
History
Physical and Neurological Examination
Electroencephalography
Neuroimaging
Other Testing
Evaluation of Drug-Resistant Seizures and Epilepsy
Prolonged Electroencephalographic Recordings
Evaluation of Patients for Epilepsy Surgery
Neurological History
Neurological Examination
EEG and Video-EEG Recordings
Magnetic Resonance Imaging
Positron Emission Tomography
Single-Photon Emission Computed Tomography
Magnetic Resonance Spectroscopy
Magnetoencephalography
Functional Magnetic Resonance Imaging
Neuropsychological Testing
Wada Test
Invasive EEG Recordings
Medical Therapy
Initiating Therapy
Antiepileptic Drug Considerations Based on Age and Gender
Pharmacoresistance, Tolerance, and Seizure Aggravation
Medication Adverse Effects
Therapeutic Drug Monitoring
Discontinuation of Antiepileptic Drug Therapy
Surgical Therapy
Timing
Presurgical Evaluation
Surgical Approaches
Surgical Results and Predictors of Surgical Freedom
Other Therapies
Dietary Therapy
Vagus Nerve Stimulation
Other Stimulation Therapies
Radiosurgery
Quality-of-Care Standards in the Management of Epilepsy
Seizure Clusters and Status Epilepticus
References
Chapter 102: Sleep and Its Disorders
Chapter Outline
Definition of Sleep and Moment of Sleep Onset
Sleep Architecture and Sleep Stages
Sleep Microstructure
Ontogeny of Sleep Patterns with Age
Sleep Habits
Sleep Requirements and Quantity of Sleep
Sleep and Dreams
Sleep and Dreams
Neurobiology of Sleep and Wakefulness
Neuroanatomical Substrates of Wakefulness
Neuroanatomical Substrates for REM Sleep
Neuroanatomical Substrates of NREM Sleep
Circadian Rhythm and Chronobiology of Sleep
Circadian, Homeostatic, and Other Sleep Factors
Circadian, Homeostatic, and Other Sleep Factors
Functions of Sleep
Physiological Changes in Sleep
Somatic Central Nervous System
Autonomic Nervous System
Respiratory Changes
Cardiovascular Changes
Gastrointestinal Changes
Endocrine Function Changes
Changes in Sexual Function
Thermoregulation Changes
Sleep Deprivation and Sleepiness
Sleep Deprivation and Sleepiness
Total Sleep Deprivation
Total Sleep Deprivation
Partial and Selective Sleep Deprivation
Partial and Selective Sleep Deprivation
Consequences of Excessive Daytime Sleepiness
Performance and Productivity at Work and School
Higher Cerebral Functions
Quality of Life and Social Interaction
Morbidity and Mortality
Causes of Excessive Daytime Sleepiness
Physiological Causes of Sleepiness
Pathological Causes of Sleepiness
Excessive Daytime Sleepiness Associated with General Medical Disorders.
Primary Sleep Disorders Associated with Excessive Daytime Sleepiness.
Classification of Sleep Disorders
International Classification of Sleep Disorders
Approach to a Patient with Sleep Complaints
Subjective Measures of Sleepiness
Clinical Phenomenology
Insomnia
Short-Term Insomnia Disorder (Acute Insomnia)
Chronic Insomnia
Idiopathic and Psychophysiological Insomnia
Paradoxical Insomnia
Inadequate Sleep Hygiene
Physiological Profiles of Insomnias
Mechanism of Insomnia in Neurological Diseases
Central Disorders of Hypersomnolence
Genetics of Narcolepsy
Pathogenesis of Narcolepsy-Cataplexy Syndrome.
Clinical Manifestations of Narcolepsy
Disturbed Night Sleep and Automatic Behavior.
Comorbid Conditions.
Differential Diagnosis of Narcolepsy-Related Sleep Attacks
Differential Diagnosis of Cataplexy and Other Features of Narcolepsy
Idiopathic Hypersomnia
Kleine–Levin Syndrome (KLS) (aka Recurrent Hypersomnia, Periodic Hypersomnolence)
Sleep Apnea Syndrome
Sleep-Disordered Breathing Terminology
Epidemiology of Obstructive Sleep Apnea Syndrome
Clinical Manifestations
Consequences of Obstructive Sleep Apnea Syndrome
Pathogenesis of Obstructive Sleep Apnea Syndrome
Evaluation and Assessment
Upper Airway Resistance Syndrome
Upper Airway Resistance Syndrome
Central Sleep Apnea Syndrome
Central Sleep Apnea Syndrome
Restless Legs Syndrome
Clinical Manifestations
Pathophysiology
Periodic Limb Movements in Sleep
Circadian Rhythm Sleep Disorders
Jet Lag
Shift-Work Sleep Disorder
Delayed Sleep Phase State
Advanced Sleep Phase State
Free-Running Circadian Rhythm Disorder
Irregular Sleep/Wake Circadian Rhythm Disorder
Neurological Disorders and Sleep Disturbance
Sleep and Epilepsy
Effect of Sleep on Epilepsy.
Effect of Epilepsy on Sleep.
Differential Diagnosis.
Degenerative Dementia and Sleep Dysfunction
Sleep Disorders Associated with Neuromuscular Disorders
Sleep and Spinal Cord Diseases
Sleep Disturbances in Poliomyelitis and Postpolio Syndrome.
Sleep Dysfunction in Amyotrophic Lateral Sclerosis.
Sleep and Headache Syndromes
Stroke and Sleep/Wake Disturbance
Traumatic Brain Injury and Sleep Disturbances
Sleep and Multiple Sclerosis
Sleep Disorders in Autonomic Failure: Multisystem Atrophy (Shy-Drager Syndrome)
Sleep-Related Movement Disorders
Rhythmic Movement Disorder
Sleep-Related Leg Cramps
Bruxism (Tooth Grinding)
Benign Sleep Myoclonus of Infancy
Propriospinal Myoclonus at Sleep Onset
Parasomnias
Somnambulism (Sleepwalking)
Sleep Terrors (Pavor Nocturnus)
Confusional Arousals
Sleep-Related Eating Disorders
Rapid Eye Movement Sleep Behavior Disorder
Nightmares (Dream Anxiety Attacks)
Isolated Symptoms, Apparently Normal Variants, and Unresolved Issues
Sleep Talking (Somniloquy)
Catathrenia (Expiratory Groaning)
Sleep Starts
Hypnagogic Foot Tremor
Alternating Leg Muscle Activation
Excessive Fragmentary Myoclonus
Sleep in Other Medical Disorders
Cardiovascular Disease and Sleep (see also earlier section on sleep apnea syndrome)
Myocardial Infarction (MI) and Sleep.
Sleep and Cardiac Arrhythmias.
Sleep and Sudden Cardiac Death.
Respiratory Disease and Sleep
Sleep and Chronic Obstructive Pulmonary Disease (COPD).
Sleep Disturbances in Bronchial Asthma.
Miscellaneous Disorders and Sleep
Gastrointestinal Diseases and Sleep.
Sleep and Endocrine Diseases.
Sleep Disturbances in Chronic Renal Failure.
Fibromyalgia Syndrome.
Chronic Fatigue Syndrome.
Sleep of Intensive Care Unit Patients.
Acquired Immunodeficiency Syndrome.
African Sleeping Sickness (Trypanosomiasis).
Sleep Disturbances in Psychiatric Illness.
Pediatric Sleep Disorders
Obstructive Sleep Apnea in Children.
Laboratory Assessment of Sleep Disorders
Polysomnographic Study
Technical Considerations
Indications for Polysomnography
Polysomnographic Findings in Sleep Disorders
Video Polysomnographic Study
Multiple Sleep Latency Test
Maintenance of Wakefulness Test
Actigraphy
Special Electroencephalographic Studies in Nocturnal Seizure
Neuroimaging Studies
Pulmonary Function Tests
Electrodiagnosis of Respiratory Muscles
Other Laboratory Tests
Principles of Management of Sleep Disorders
Treatment of Narcolepsy and Cataplexy
Treatment of Obstructive Sleep Apnea Syndrome
Pharmacological Treatment
Mechanical Devices
Surgical Treatment
Treatment of Cheyne-Stokes Breathing and Central Sleep Apnea
Treatment of Insomnia
Pharmacological Treatment
Nonpharmacological Treatment
Treatment of RLS-PLMS
Treatment of Circadian Rhythm Sleep Disorder
Treatment of Parasomnias
Treatment of Sleep Dysfunction Associated with Neurological Disorders
References
Chapter 103: Headache and Other Craniofacial Pain
Chapter Outline
Pain Transmission and Modulation as Related to Headache
Classification
Headache Attributed to Nonvascular, Noninfectious Intracranial Disorders
Tumors
Headaches Due to Elevated Intracranial Pressure
Idiopathic Intracranial Hypertension
Headaches Associated with Low Intracranial Pressure/Low CSF Volume
Transient Syndrome of Headache with Neurological Deficits and Cerebrospinal Fluid Lymphocytosis
Headache Attributed to Trauma or Injury to the Head and/or Neck
Headache Attributed to Infection
Headache Attributed to Cranial or Cervical Vascular Disorders
Aneurysms and Arteriovenous Malformations
Subarachnoid Hemorrhage and Thunderclap Headache
Subdural Hematoma
Parenchymal Hemorrhage
Cerebral Ischemia
Carotid and Vertebral Artery Dissection
Giant-Cell Arteritis
Clinical Symptoms.
Physical Findings.
Laboratory Studies.
Pathology.
Immunology, Etiology, and Pathogenesis.
Epidemiology.
Treatment and Management.
Course and Prognosis.
Headache Associated with Disorders of Homeostasis
Headache Caused by Disorders of the Cranium, Neck, Eyes, Ears, Nose, Sinuses, Teeth, Mouth, or Other Facial or Cranial Structures
Ocular Causes of Headache
Nasal Causes of Headache and Facial Pain
Temporomandibular Joint Disorders
Other Dental Causes of Craniofacial Pain
Headaches and the Cervical Spine
Migraine
Definition and Classification
Epidemiology
Migraine Attack Frequency
Triggers of the Migraine Attack
The Migraine Attack
Migraine Prodrome.
Migraine Aura.
Headache Phase.
Migraine Postdrome.
Physical Findings
Diagnostic Testing
Migraine Genetics
Pathophysiology
Vascular Versus Neuronal.
A Migraine Generator.
Cortical Spreading Depression.
The Trigeminocervical System and Migraine Headache.
The Hyperexcitable Migraine Brain.
Treatment and Management
Pharmacotherapy.
Symptomatic Treatment
Triptans.
Ergots.
Prophylactic Treatment
β-Adrenergic Blockers.
Calcium Channel Blockers.
Antidepressants.
Anticonvulsants.
Other Prophylactic Agents.
Hormones and Migraine
Menstrual Migraine.
Management of Menstrual Migraine
Acute Menstrual Migraine Therapy.
Prophylactic Menstrual Migraine Therapy.
Oral Contraception in Female Migraineurs
Migraine and Pregnancy.
Migraine in Menopause.
Chronic Daily Headache
Chronic Migraine
Medication Overuse Headache
Cluster Headache
Epidemiology
Clinical Features
Pathophysiology
Investigations
Differential Diagnosis
Treatment and Management
Pharmacological Management
Acute (Symptomatic) Therapy.
Preventive Pharmacotherapy.
Transitional Prophylaxis.
Maintenance Prophylaxis.
Surgical Treatment.
Other Trigeminal Autonomic Cephalalgias (TAC)
Paroxysmal Hemicrania
Short-Lasting Unilateral Neuralgiform Headache Attacks
Hemicrania Continua
Other Primary Headaches
Tension-Type or Muscle-Contraction Headache
Primary Stabbing Headache
Primary Cough Headache
Exertional Headache
Primary Headache Associated with Sexual Activity
Hypnic Headache
New Daily Persistent Headache (NDPH)
Nummular Headache
External-Pressure Headache
Primary Thunderclap Headache
Other Types of Headache and Facial Pain
Cold-Stimulus Headache
Neck-Tongue Syndrome
Persistent Idiopathic Facial Pain
Geniculate Herpes Zoster or Ramsay Hunt Syndrome
Painful Post-Traumatic Trigeminal Neuropathy
Cranial and Facial Neuralgias
Trigeminal Neuralgia
Clinical Symptoms.
Physical Findings.
Laboratory and Radiological Findings.
Pathology.
Pathogenesis and Etiology.
Epidemiology.
Course and Prognosis.
Treatment and Management.
Glossopharyngeal Neuralgia.
Nervus Intermedius Neuralgia (Geniculate Neuralgia, Hunt Neuralgia).
Occipital Neuralgia.
Postherpetic Neuralgia.
Headache in Children and Adolescents
Migraine
Episodic Syndromes That May be Associated with Migraine
Tension-Type Headache
References
Chapter 104: Cranial Neuropathies
Chapter Outline
Olfactory Nerve (Cranial Nerve I)
Optic Nerve (Cranial Nerve II)
Oculomotor Nerve (Cranial Nerve III)
Anatomy
Clinical Lesions
Oculomotor Nucleus
Oculomotor Palsy Appearance
Brainstem Fascicle
Interpeduncular Fossa and Subarachnoid Space
Cavernous Sinus
Orbital Apex
Isolated Oculomotor Nerve Palsy
Trochlear Nerve (Cranial Nerve IV)
Anatomy
Clinical Lesions
Trochlear Nucleus and Fascicle
Trochlear Palsy Appearance
Subarachnoid Space
Cavernous Sinus
Orbital Apex
Isolated Trochlear Nerve Palsy
Trigeminal Nerve (Cranial Nerve V)
Anatomy
Clinical Lesions
Trigeminal Nucleus
Subarachnoid Space: Nerve Roots
Trigeminal Ganglion
Trigeminal Nerve Branches
Abducens Nerve (Cranial Nerve VI)
Anatomy
Clinical Lesions
Abducens Nucleus
Abducens Palsy Appearance
Brainstem Fascicle
Subarachnoid Space and Dorello Canal
Petrous Apex
Cavernous Sinus
Orbital Apex
Isolated Abducens Palsy
Facial Nerve (Cranial Nerve VII)
Anatomy
Clinical Lesions
Facial Palsy Appearance
Facial Nucleus and Fascicle
Subarachnoid Space: Nerve Root
Intratemporal Facial Nerve and Geniculate Ganglion
Facial Nerve Branches
Vestibulocochlear Nerve (Cranial Nerve VIII)
Glossopharyngeal Nerve (Cranial Nerve IX)
Anatomy
Clinical Lesions
Glossopharyngeal Palsy Appearance
Subarachnoid Space: Nerve Root
Petrosal Ganglion and Jugular Foramen
Glossopharyngeal Nerve Branches
Vagus Nerve (Cranial Nerve X)
Anatomy
Clinical Lesions
Vagus Palsy Appearance
Vagus Nucleus
Nodose Ganglion and Jugular Foramen
Vagus Nerve Branches
Spinal Accessory Nerve (Cranial Nerve XI)
Anatomy
Clinical Lesions
Spinal Accessory Palsy Appearance
Spinal Accessory Nucleus
Jugular Foramen
Spinal Accessory Nerve Branches
Hypoglossal Nerve (Cranial Nerve XII)
Anatomy
Clinical Lesions
Hypoglossal Palsy Appearance
Hypoglossal Nucleus and Fasciculus
Hypoglossal Canal
Hypoglossal Peripheral Branches
References
Chapter 105: Disorders of Bones, Joints, Ligaments, and Meninges
Chapter Outline
Heritable Disorders of Connective Tissue
Osteogenesis Imperfecta
Ehlers-Danlos Syndrome
Chondrodysplasias
Achondroplasia
Pseudoachondroplasia
Stickler Syndrome
Marfan Syndrome
Epidermolysis Bullosa
Congenital and Inherited Craniospinal Malformations and Deformities
Craniosynostosis
Occipitalization of the Atlas
Basilar Impression
Klippel-Feil Anomaly
Atlantoaxial Subluxation
Chiari I Malformation
Clinical Presentation
Management
Spinal Dysraphism
Spina Bifida Occulta
Myelomeningocele and Encephalocele
Dandy-Walker Syndrome
Tethered Cord Syndromes
Syringomyelia and Syringobulbia
Clinical Presentation
Communicating and Noncommunicating Syringes
Abnormalities of the Cervicomedullary Junction
Syrinx Associated with Spinal Cord Tumors
Syrinx Associated with Spinal Cord Trauma
Syrinx Associated with Other Focal Spinal Cord Pathologies
Treatment
Clinical Correlations
Spinal Deformities and Metabolic Bone Disease
Osteoporosis
Osteomalacia and Rickets
Osteopetrosis
Paget Disease
Diagnosis
Cranial Neurological Complications
Spinal Neurological Complications
Treatment
Juvenile Kyphosis
Scoliosis
Diffuse Idiopathic Skeletal Hyperostosis
Ossification of the Posterior Longitudinal Ligament or Ligamentum Flavum
Degenerative Disease of the Spine
Spinal Osteoarthritis and Spondylosis
Cervical Spondylosis
Cervical Radiculopathy
Clinical Presentation
Treatment
Cervical Spondylotic Myelopathy
Vertebral Artery Stroke Caused by Cervical Osteoarthritis
Thoracic Spondylosis
Lumbar Spondylosis
Low Back Pain
Spondylolysis and Spondylolisthesis
Lumbar Radiculopathies
Monoradiculopathy
Clinical Presentation.
Diagnostic Studies.
Treatment.
Acute Cauda Equina Syndrome
Lumbar Canal Stenosis
Diagnostic Studies.
Treatment.
Infectious Diseases of the Spine
Pyogenic Vertebral Osteomyelitis and Epidural Abscess
Granulomatous Vertebral Osteomyelitis
Inflammatory Joint Disease
Rheumatoid Arthritis
Systemic Presentation
Pathogenesis
Neurological Manifestations
Inflammatory Spondyloarthropathies
Clinical Presentation
Pathogenesis
Spinal Neurological Complications
Nonspinal Neurological Complications
Laboratory Abnormalities
Epidural Lipomatosis
Chronic Meningitis
Chronic Adhesive Arachnoiditis
Recurrent Meningitis
Pachymeningitis
Uveomeningitis Syndromes
Superficial Hemosiderosis
Fibromyalgia
References
Chapter 106: Disorders of Nerve Roots and Plexuses
Chapter Outline
Disorders of Nerve Roots
Anatomical Features
Traumatic Radiculopathies
Nerve Root Avulsion
Clinical Features and Diagnosis.
Treatment.
Disk Herniation
Clinical Features.
Diagnosis.
Treatment.
Diabetic Polyradiculoneuropathy
Neoplastic Polyradiculoneuropathy (Neoplastic Meningitis)
Polyradiculopathy associated with Sarcoidosis
Infectious Radiculopathy
Tabes Dorsalis
Polyradiculoneuropathy in Human Immunodeficiency Virus-Infected Patients
Lyme Radiculoneuropathy
Herpes Zoster
Acquired Demyelinating Polyradiculoneuropathy
Acquired Disorders of the Dorsal Root Ganglia
Radiculopathies Simulating Motor Neuron Disease
Disorders of the Brachial Plexus
Anatomical Features
Clinical Features and Diagnosis
Neurological Examination
Electrodiagnostic Studies
Radiological Studies
Traumatic Plexopathy
Early Management
Long-Term Management
Neurogenic Thoracic Outlet Syndrome
Metastatic and Radiation-Induced Brachial Plexopathy in Patients with Cancer
Metastatic Plexopathy
Radiation-Induced Plexopathy
Idiopathic Brachial Plexopathy
Diagnosis
Pathophysiology and Etiology
Treatment and Prognosis
Disorders of the Lumbosacral Plexus
Anatomical Features
Clinical Features
Neurological Examination
Electrodiagnostic Studies
Neuroimaging Studies
Differential Diagnosis
Structural Lumbosacral Plexopathy
Hematoma
Abscess
Aneurysm
Trauma
Pregnancy
Neoplasia
Nonstructural Lumbosacral Plexopathy
Radiation Plexopathy
Vasculitis
Idiopathic Lumbosacral Plexopathy
References
Chapter 107: Disorders of Peripheral Nerves
Chapter Outline
Clinical Approach to Disorders of Peripheral Nerves
Structure of Peripheral Nerves
Pathological Processes Involving Peripheral Nerves
Classification of Peripheral Nerve Disorders
Diagnostic Clues from the History
Diagnostic Clues from the Examination
Electrodiagnostic Studies
Nerve and Skin Biopsy
Other Laboratory Tests
Mononeuropathies
Definition and Classification of Mononeuropathies
Neurapraxia (First-Degree Nerve Injury)
Axonotmesis
Second-Degree Nerve Injury.
Third-Degree Nerve Injury.
Fourth-Degree Nerve Injury.
Neurotmesis (Fifth-Degree Nerve Injury)
Mononeuropathies of the Upper Extremities
Median Nerve
Applied Anatomy.
Median Nerve Entrapment at the Wrist (Carpal Tunnel Syndrome).
Median Nerve Compressions at the Elbow
Anterior Interosseous Nerve Syndrome.
Pronator Teres Syndrome.
Median Nerve Entrapment at the Ligament of Struthers.
Ulnar Nerve
Applied Anatomy.
Ulnar Nerve Entrapment at the Elbow.
Ulnar Nerve Entrapment at the Wrist.
Radial Nerve
Applied Anatomy.
Radial Nerve Compression in the Arm.
Posterior Interosseous Neuropathy.
Radial Tunnel Syndrome.
Superficial Radial Sensory Neuropathy (Cheiralgia Paresthetica).
Musculocutaneous Nerve
Suprascapular Nerve
Intercostobrachial Nerve
Double Crush Syndrome
Mononeuropathies of the Lower Extremities
Sciatic Nerve
Applied Anatomy.
Sciatic Neuropathy at the Sciatic Notch.
Piriformis Syndrome.
Common Fibular (Peroneal) Nerve
Applied Anatomy.
Common Fibular (Peroneal) Neuropathy at the Fibular Neck.
Tibial Nerve
Applied Anatomy.
Tarsal Tunnel Syndrome.
Sural Nerve
Femoral Nerve
Applied Anatomy.
Femoral Nerve Lesions.
Saphenous Nerve
Other Lower-Extremity Mononeuropathies
Lateral Femoral Cutaneous Nerve Entrapment (Meralgia Paresthetica).
Ilioinguinal Neuropathy.
Obturator Neuropathy.
Migrant Sensory Neuritis of Wartenberg
Localized Perineurial Hypertrophic Mononeuropathy
Hereditary Neuropathies
Charcot–Marie–Tooth Disease (Hereditary Motor and Sensory Neuropathy)
Charcot–Marie–Tooth Disease Type 1
Charcot–Marie–Tooth Disease Type 2
X-Linked Charcot–Marie–Tooth Disease
Charcot–Marie–Tooth Disease Type 3, or Dejerine-Sottas Disease
Charcot–Marie–Tooth Disease Type 4
Complex Forms of Charcot–Marie-Tooth Disease
Practical Molecular Diagnostic Testing for Patients with Charcot–Marie–Tooth Disease and Related Disorders
Treatment and Management
Hereditary Neuropathy with Liability to Pressure Palsies
Hereditary Neuralgic Amyotrophy
Giant Axonal Neuropathy
Hereditary Sensory and Autonomic Neuropathy
Hereditary Sensory and Autonomic Neuropathy Type I
Hereditary Sensory and Autonomic Neuropathy Type II
Hereditary Sensory and Autonomic Neuropathy Type III (Riley-Day Syndrome)
Hereditary Sensory and Autonomic Neuropathy Type IV
Treatment and Management
Neuropathy Associated with Spinocerebellar Ataxias
Primary Erythromelalgia
Familial Amyloid Polyneuropathy
Transthyretin Familial Amyloid Polyneuropathy (TTR Amyloidosis, Familial Amyloid Polyneuropathy Types I and II)
Apolipoprotein A1 Amyloidosis (Familial Amyloid Polyneuropathy Type III, Iowa, Van Allen)
Gelsolin Amyloidosis (Familial Amyloid Polyneuropathy Type IV, Meretoja)
Diagnosis of Familial Amyloid Polyneuropathy
Treatment
Porphyric Neuropathy
Clinical Features of the Acute Porphyric Attack
Laboratory Studies
Pathogenesis
Treatment and Management
Fabry Disease
Leukodystrophies with Neuropathy
Metachromatic Leukodystrophy
Globoid Cell Leukodystrophy (Krabbe disease)
Adrenomyeloneuropathy
Phytanic Acid Storage Disease (Refsum Disease)
Tangier Disease
Abetalipoproteinemia (Bassen-Kornzweig Syndrome)
Mitochondrial Cytopathies and Polyneuropathy
Inflammatory Demyelinating Polyradiculoneuropathies
Guillain–Barré Syndrome
Clinical Features
Guillain–Barré Syndrome Subtypes and Variants
Diagnostic Studies
Differential Diagnosis
Pathology
Pathogenesis
Treatment
Course and Prognosis
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Clinical Features
Laboratory Studies
Treatment
Prognosis
Multifocal Motor Neuropathy
Clinical Features
Laboratory Studies
Treatment
Peripheral Neuropathies Associated with Monoclonal Proteins
Monoclonal Gammopathy of Undetermined Significance
Clinical Features
Treatment
Waldenström Macroglobulinemia
Multiple Myeloma
Osteosclerotic Myeloma and POEMS Syndrome
Cryoglobulinemia
Primary Systemic Amyloidosis
Clinical Features
Neuropathies Associated with Systemic Disorders
Diabetic Neuropathies
Clinical Features
Distal Symmetrical Polyneuropathy.
Autonomic Neuropathy.
Lumbosacral Radiculoplexopathy (Amyotrophy, Proximal Neuropathy).
Truncal Neuropathy.
Limb Mononeuropathy.
Multiple Mononeuropathies.
Cranial Mononeuropathies.
Laboratory Findings
Pathology
Pathogenesis of Diabetic Neuropathy
Treatment
Peripheral Neuropathy in Malignancies
Compression/Invasion of Nerves
Metastases
Entrapment
Iatrogenic Neuropathies
Paraneoplastic Neuropathies
Malignant Inflammatory Sensory Polyganglionopathy (Paraneoplastic Sensory Neuronopathy)
Clinical Features.
Laboratory Features.
Differential Diagnosis.
Prognosis.
Paraneoplastic Autonomic Neuropathy
Sensorimotor Polyneuropathy
Multiple Mononeuropathies
Lymphoma, Neurolymphomatosis, Leukemia, and Polycythemia Vera
Neuropathies Related to Bone Marrow Transplantation
Peripheral Nerve Vasculitis
Nonsystemic Vasculitic Neuropathy
Pathogenesis
Clinical Features
Laboratory Features
Treatment
Neuropathy in Connective Tissue Diseases
Rheumatoid Arthritis
Systemic Lupus Erythematosus
Systemic Sclerosis
Sjögren Syndrome
Trigeminal Sensory Neuropathy in Connective Tissue Disorders
Neuropathy in Sarcoidosis
Alcoholic Neuropathy and Nutritional Deficiencies
Alcoholic Neuropathy
Clinical Features.
Etiology.
Treatment.
Niacin Deficiency (Pellagra Neuropathy)
Pyridoxine (Vitamin B6) Deficiency
Folate Deficiency
Vitamin B12 Deficiency: Subacute Combined Degeneration
Vitamin E Deficiency
Neuropathy Associated with Malabsorption Syndromes
Bariatric Surgery
Copper Deficiency Myelopathy and Myeloneuropathy
Uremic Neuropathy
Treatment
Peripheral Neuropathy in Liver Disease
Endocrine Disorders Associated with Peripheral Neuropathy
Hypothyroid Neuropathy
Acromegaly
Hypoglycemic Amyotrophy
Ischemic Monomelic Neuropathy
Peripheral Neuropathy in Chronic Obstructive Lung Disease
Critical Illness Polyneuropathy
Toxic Neuropathies
Drug-Induced Neuropathies
Amiodarone
Bortezomib
Chloramphenicol
Chloroquine
Cisplatin
Colchicine
Dapsone
Dideoxynucleosides
Disopyramide
Disulfiram
Ethambutol
Etoposide
Gold
Heroin
Hydralazine
Isoniazid
Leflunomide
Linezolid
Lipid-Lowering Agents
Metronidazole and Misonidazole
Nitrofurantoin
Nitrous Oxide
Perhexiline
Phenytoin
Pyridoxine
Suramin
Tacrolimus
Taxanes
Thalidomide
L-Tryptophan
TNF-α Blockers
Vinca Alkaloids
Neuropathies Associated with Infections
Viral Infections and Neuropathy
Human Immunodeficiency Virus Type 1
Acute and Chronic Inflammatory Demyelinating Polyradiculoneuropathies.
Mononeuropathy and Multiple Mononeuropathies.
Distal Symmetrical Polyneuropathy.
Lumbosacral Polyradiculoneuropathy.
Cytomegalovirus
Epstein-Barr Virus
Herpes Simplex Virus
Herpes Zoster Virus
Hepatitis Viruses
Human T-Cell Lymphotropic Virus Type 1
Tropical Ataxic Neuropathy
West Nile Virus Motor Neuronopathy
Peripheral Neuropathy in Creutzfeldt–Jakob Disease
Bacterial Infections and Neuropathy
Neuropathy Associated with Mycobacterium leprae
Clinical Features.
Treatment.
Diphtheritic Neuropathy
Peripheral Nerve Manifestations of Lyme Borreliosis
Parasitic Infections Associated with Peripheral Neuropathy
American Trypanosomiasis (Chagas Disease)
Chronic Idiopathic Axonal Polyneuropathy
Pain in Peripheral Neuropathy
Management of Neuropathic Pain
References
Chapter 108: Disorders of the Autonomic Nervous System
Chapter Outline
Classification of Autonomic Disorders
Clinical Features of Autonomic Impairment
Vision
Cardiovascular
Pulmonary
Gastrointestinal
Urinary Tract
Sexual Function
Blood
Sweating Abnormalities
Assessment of Autonomic Function
Orthostatic Test
Tilt-Table Testing
Sweat Testing
Thermoregulatory Sweat Test
Quantitative Sudomotor Axon Reflex Test
Sympathetic Skin Response
Pharmacological Tests
Functional Autonomic Disorders
Reflex Syncope
Syncopal Migraine
Carotid Sinus Hypersensitivity
Gravity-Induced Loss of Consciousness
Postural Tachycardia Syndrome
Functional Gastrointestinal Disorders
Autonomic Disorders Characterized by Excessive Autonomic Outflow
Autonomic Storm and Takotsubo Cardiomyopathy
Takotsubo “Broken Heart” Syndrome
Predominantly Peripheral Afferent Structural Autonomic Disorders Characterized by Impaired Autonomic Outflow
Familial Dysautonomia
Baroreflex Failure
Predominantly Peripheral Efferent Structural Autonomic Disorders Characterized by Impaired Autonomic Outflow
Pure Autonomic Failure
Autoimmune Autonomic Ganglionopathy
Autonomic Neuropathy
Drug-Induced Dysautonomia
Dopamine β-Hydroxylase Deficiency
Menkes Kinky Hair Syndrome (Trichopolydystrophy, X-linked Copper Deficiency)
Predominantly Central Structural Autonomic Disorders Characterized by Impaired Autonomic Outflow
Multiple System Atrophy
Parkinson Disease
Myelopathy
Nonautonomic Disorders Causing Hypotension or Syncope to Consider in the Differential Diagnosis
Aortic Stenosis
Hypertrophic Cardiomyopathy
Subclavian Steal Syndrome (Millikan-Siekert Syndrome)
Innominate Artery Syndrome
Sick Sinus Syndrome (Short Syndrome)
Glossopharyngeal Neuralgia (Weisenberg Syndrome)
Inferior Vena Cava Syndrome (Supine Hypotensive Syndrome)
Pancreatic Cholera (Verner-Morrison Syndrome)
Villous Adenoma (McKittrick-Wheelock Syndrome)
Cortisol Deficiency (Addison Disease)
Therapy of Dysautonomias
Nonpharmacological Interventions for Orthostatic Hypotension
Dietary Measures
Sodium
Water Drinking
Food Ingestion
Drugs
Fludrocortisone
Midodrine
Droxidopa
Pyridostigmine
Erythropoietin
Octreotide
Pacemaker Placement
Treatment of Supine Hypertension
Bladder Issues
Bowel Issues
Acknowledgments
References
Chapter 109: Disorders of Neuromuscular Transmission
Chapter Outline
Myasthenia Gravis
Epidemiology
Clinical Presentation
Physical Findings
Ocular Muscles
Oropharyngeal Muscles
Limb Muscles
Immunopathology
The Thymus in Myasthenia Gravis
Myasthenia Gravis Subtypes
Ocular Myasthenia Gravis
Generalized Myasthenia Gravis
Thymomatous Myasthenia Gravis
MuSK-Antibody Myasthenia Gravis (MuSK-MG)
Seronegative Myasthenia Gravis
Genetics
Diagnostic Procedures
Edrophonium Chloride Test
Auto-Antibodies
Acetylcholine Receptor Antibodies (AChR-abs).
Anti-striational Muscle Antibodies (StrAbs).
Anti-MuSK Antibodies.
Electrodiagnostic Testing
Ocular Cooling
Comparison of Diagnostic Techniques
Other Diagnostic Procedures
Treatment of Myasthenia Gravis
Symptom Management: Cholinesterase Inhibitors (ChEIs)
Short-Term (Rapid-Onset) Immune Therapies
Plasma Exchange.
Intravenous Immunoglobulin (IVIg).
Long-Term Immune Therapies
Corticosteroids.
Immunosuppressant Drugs.
Summary.
Thymectomy
Evolving Treatments
Treatment Plan for Myasthenia Gravis
Association of MG with Other Diseases
Treatment of Associated Diseases and Medications to Avoid
Special Situations
Myasthenic Crisis
Anesthetic Management
Ocular Myasthenia Gravis
Childhood Myasthenia Gravis
d-Penicillamine-Induced Myasthenia Gravis
Pregnancy
Transient Neonatal Myasthenia Gravis (TNMG)
Congenital Myasthenic Syndromes (CMS)
AChR Deficiency
Choline Acetyl Transferase (ChAT) Deficiency
Congenital Acetylcholinesterase (AChE) Deficiency
Slow-Channel Congenital Myasthenic Syndrome (SCCMS)
Fast Channel Syndrome
Rapsyn Mutations
DOK-7 Mutations
GFPT1 and DPAGT1 Mutations
Lambert–Eaton Syndrome (LES)
Diagnostic Procedures
Immunopathology
Treatment
Myasthenia Gravis/Lambert–Eaton Syndrome Overlap Syndrome
Botulism
Clinical Features
Electromyographic Findings
Treatment
Other Causes of Abnormal Neuromuscular Transmission
References
Chapter 110: Disorders of Skeletal Muscle
Chapter Outline
Muscle Histology
Changes of Denervation
Myopathic Changes
Other Changes
Immunohistochemistry and Immunoblot
Specific Disorders
Muscular Dystrophies
Dystrophin Deficiency (Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Atypical Forms)
Duchenne Muscular Dystrophy.
Treatment of Duchenne Muscular Dystrophy
Physical Therapy.
Bracing.
Surgery.
Pharmacological Treatment.
Becker Muscular Dystrophy.
Other Phenotypes Associated with Dystrophinopathy.
Genetic Counseling.
Other Limb–Girdle Dystrophies
Autosomal Dominant Limb–Girdle Muscular Dystrophies
LGMD1A (Myotilin Deficiency).
LGMD1B (Lamin A/C Deficiency).
LGMD1C (Caveolin-3 Deficiency).
LGMD1D (DNAJB6 Deficiency).
LGMD1E (Desmin Deficiency).
LGMD1F (Transportin 3 Deficiency).
LGMD2A (Calpain-3 Deficiency).
LGMD2B (Dysferlin Deficiency).
LGMD2C, 2D, 2E, and 2F (Sarcoglycan Deficiencies).
LGMD2G (Telethonin Deficiency).
LGMD2H.
LGMD2I.
LGMD2J.
LGMD2K, LGMD2M, LGMD2N, and LGMD2O.
LGMD2P (Primary α-Dystroglycanopathy Deficiency).
LGMD2Q (Plectin-1 Deficiency).
LGMD2R (Desmin Deficiency).
LGMD2S (TRAPPC11 Deficiency).
Myofibrillar Myopathy.
Congenital Muscular Dystrophies
Laminin-α2 (Merosin) Deficiency.
Other Forms of Classical MDC Type 1.
Fukuyama-Type Muscular Dystrophy.
Walker-Warburg Syndrome and Muscle-Eye-Brain Disease.
Other Congenital Muscular Dystrophies
Ullrich Congenital Muscular Dystrophy.
Congenital Muscular Dystrophies with Rigid Spine Syndrome.
Other Regional Forms of Muscular Dystrophies
Emery-Dreifuss Dystrophy (Emerin Deficiency).
Facioscapulohumeral Dystrophy.
Scapuloperoneal Syndromes.
Oculopharyngeal Muscular Dystrophy.
Distal Muscular Dystrophies/Distal Myopathies
Miyoshi Myopathy.
Welander Myopathy.
Udd Myopathy.
Markesbery-Griggs Myopathy.
GNE Myopathy (Nonaka Myopathy/Autosomal Recessive Hereditary Inclusion Body Myopathy).
Laing Myopathy.
Williams Myopathy.
Myotonic Dystrophies
Myotonic Dystrophy Type 1.
Congenital Myotonic Dystrophy.
Myotonic Dystrophy Type 2 or Proximal Myotonic Myopathy.
Channelopathies
Ion Channelopathies
Calcium Channel Abnormalities (Familial Hypokalemic Periodic Paralysis Type 1)
Secondary Hypokalemic Paralysis
Sodium Channel Abnormalities
Potassium-Sensitive Periodic Paralysis.
Hyperkalemic Periodic Paralysis.
Paramyotonia Congenita.
Potassium-Aggravated Myotonias.
Secondary Hyperkalemic Periodic Paralysis.
Hypokalemic Periodic Paralysis Type 2.
Potassium Channelopathy
Andersen-Tawil Syndrome.
Chloride Channelopathy
Myotonia Congenita.
Metabolic Myopathies
Disorders of Carbohydrate Metabolism
Myophosphorylase Deficiency.
Phosphofructokinase Deficiency.
Phosphoglycerate Kinase Deficiency.
Phosphoglycerate Mutase Deficiency.
Lactate Dehydrogenase Deficiency.
β-Enolase Deficiency.
α-Glucosidase Deficiency (Acid Maltase Deficiency).
Treatment of the Glycolytic Disorders.
Disorders of Lipid Metabolism
Carnitine Palmitoyl Transferase Deficiency.
Carnitine Deficiency Myopathy.
Other Disorders of Lipid Metabolism.
Disorder of Abnormal Nucleotide Metabolism
Myoadenylate Deaminase Deficiency.
Mitochondrial Myopathies
Myoclonic Epilepsy with Ragged-Red Fibers
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes
Mitochondrial Myopathies Associated with Recurrent Myoglobinuria
Kearns-Sayre Syndrome
Progressive External Ophthalmoplegia
Mitochondrial DNA Depletion Syndrome
Congenital Myopathies
Central Core Disease
Nemaline Myopathy
Centronuclear Myopathy
Congenital Fiber-Type Disproportion
Inflammatory Myopathies
Dermatomyositis
Polymyositis
Dermatomyositis and Polymyositis Associated with Other Collagen Vascular Diseases (Overlap Syndromes)
Polymyositis or Dermatomyositis Associated with Neoplasia
Immune-Mediated Necrotizing Myopathy
Prognosis and Treatment of Dermatomyositis, Polymyositis, and Immune-Mediated Necrotizing Myopathy
Inclusion Body Myositis
Other Inflammatory Conditions
Polymyalgia Rheumatica
Toxic Myopathies
Necrotizing Myopathies
Cholesterol-Lowering Drugs.
Immunophilins: Cyclosporine and Tacrolimus.
Amphiphilic Drug Myopathy (Drug-Induced Autophagic Lysosomal Myopathy)
Chloroquine.
Amiodarone.
Antimicrotubular Myopathies
Colchicine.
Myopathies of Unclear Etiology
Corticosteroid Myopathy.
Acute Quadriplegic Myopathy/Critical Illness Myopathy.
Rhabdomyolysis
References
Chapter 111: Neurological Problems of the Newborn
Chapter Outline
General Principles of Investigation and Management
Neonatal Seizures
Diagnosis
Differentiation of Seizures from Nonconvulsive Movements
Determination of the Underlying Cause
Electroencephalography
Management
Duration of Treatment and Outcome
Hypoxic-Ischemic Brain Injury in the Term Newborn
Diagnosis
Electroencephalography and Cortical Evoked Responses
Metabolic Biomarkers
Neuroimaging
Management
Maintenance of Adequate Ventilation
Prevention of Metabolic Derangements
Control of Brain Swelling
Hypothermia
Prognosis
Perinatal Stroke (Focal/Multifocal Hypoxic-Ischemic Brain Injury)
Hemorrhagic and Hypoxic-Ischemic Brain Injury in the Premature Newborn
Diagnosis
Pathogenesis and Management
Prognosis
Intraventricular Hemorrhage in the Term Newborn
Infections of the Central Nervous System
Neonatal Meningitis
Management
Prognosis
Viral and Parasitic Infections
Congenital Rubella
Cytomegalovirus
Herpes Simplex
Toxoplasmosis
Human Immunodeficiency Virus
Mechanical Trauma to Extracranial, Central, and Peripheral Nervous System Structures
Intracranial Hemorrhage
Extracranial Hemorrhage
Skull Fractures
Spinal Cord Injury
Traumatic Injury to the Peripheral Nervous System
Facial Paralysis
Brachial Plexus Injury
Management
Effects of Drugs and Toxins
Teratogenic Effects and Intrauterine Growth Retardation
Risk for Intracranial Hemorrhage
Passive Addiction and Withdrawal Syndrome
References
Chapter 112: Neurological Problems of Pregnancy
Chapter Outline
Neurological Complications of Contraception
Ethical Considerations
Imaging
Headache
Tension Headache
Migraine Headache
Before Pregnancy
During Pregnancy
Postpartum
Leg Muscle Cramps
Myasthenia Gravis
Before Pregnancy
During Pregnancy
Postpartum
Pregnancy Outcome
Disorders of Muscle
Myotonic Dystrophy
Facioscapulohumeral Dystrophy
Limb–Girdle Muscular Dystrophy
Inflammatory Myopathy
Neuropathy
Bell Palsy
Carpal Tunnel Syndrome
Low Back Pain
Meralgia Paresthetica
Acute Polyradiculoneuropathy (Guillain–Barré Syndrome)
Chronic Inflammatory Demyelinating Polyneuropathy
Charcot–Marie–Tooth Disease Type 1
Gestational Polyneuropathy
Maternal Brachial Plexus Neuropathy
Maternal Obstetric Palsy
Movement Disorders
Restless Legs
Chorea Gravidarum
Huntington Disease
Friedreich Ataxia
Dystonia
Parkinson Disease
Tourette Syndrome
Wilson Disease
Wernicke Encephalopathy
Multiple Sclerosis
Neuromyelitis Optica—Devic Syndrome
Tumors
Primary Brain Neoplasms
Pituitary Tumors
Choriocarcinoma
Idiopathic Intracranial Hypertension (Pseudotumor Cerebri)
Epilepsy and Its Treatments
Maternal Considerations
Fetal Considerations
Common Advice and Management Strategy
Cerebrovascular Disease
Arteriovenous Malformations
Intracranial Hemorrhage
Ischemic Stroke
Antibody Syndrome
Postpartum Stroke
Cerebral Venous Thrombosis
Eclamptic Encephalopathy
References
Chapter 113: Functional and Dissociative (Psychogenic) Neurological Symptoms
Chapter Outline
Terminology
Psychiatric Terminology
Other Terminology
Epidemiology in Neurology and Other Medical Specialties
Clinical Assessment of Functional and Dissociative (Psychogenic) Symptoms
General Advice in History Taking
Advice in Specific Physical Diagnosis
Blackouts/Dissociative (Nonepileptic) Attacks
Weakness/Paralysis
Movement Disorders
Tremor
Parkinsonism
Myoclonus
Dystonia
Gait Disorders
Sensory Disturbances
Visual Symptoms
Speech and Swallowing Symptoms
Memory and Cognitive Symptoms
Overlap with Pain and Fatigue
Pain
Fatigue
Feigning and Malingering
Misdiagnosis
Prognosis
Etiology and Mechanism
Investigations
Treatment
Explanation
Further Neurological Treatment
Physiotherapy
Psychological Treatment
Specific Advice for Dissociative (Nonepileptic) Attacks
Specific Advice for Functional Motor Symptoms
Drug Treatment
When Nothing Helps
Summary
References
Index
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