This book, Differential Diagnosis in Neurology, is the unified perspective of an eminent physician with decades of clinical experience and teaching; one of the most skilled clinical neurologists of modern times and a seasoned researcher who was the primary investigator for many clinical trials, and who published numerous clinical and basic research papers. The “real world” aspects of the book are based on morning reports with neurology residents and students conducted over 40 years. The differential diagnosis generated by subspecialty division chiefs supplemented those proposed in morning reports.
The book is conceived as a guide that will give the clinician a concise snapshot or skeleton with a general background of the disease at hand. Other disease aspects included in this book are molecular genetics, physiology, and biochemistry that will elucidate mechanisms and assist in discovering new entities. Each chapter includes an extensive list of suggestions for further reading.
It is the art of crosslinking between medical facts that distinguishes Dr. Schwartzman from other teachers of neurology and that makes this book uniquely valuable.
“The essence of a differential diagnosis is ‘splitting’ rather than ‘lumping’: it requires bringing knowledge to the table and then adding experience” – Robert J. Schwartzman
Author(s): Robert Jay Schwartzman
Series: Biomedical and Health Research, 78
Edition: 2
Publisher: IOS Press
Year: 2019
Language: English
Tags: Neurology Differential Diagnosis; Biochemistry; Medicine & Health; Neurosciences
Title Page
Foreword
Preface
Contents
CHAPTER 1. VASCULAR DISEASE
Ischemic Stroke
The Neurovascular Unit: Outline of Some Mechanisms Common to Stroke
Risk Factors for Ischemic Stroke
Risk Factors That Predict Stroke
Atherosclerosis
The Arterial Wall and Aneurysms
Collateral Circulation
Evolving Evaluation of Biomarkers in Acute Cerebrovascular Disease
The Natural History of Extracranial and Intracranial Atherosclerosis
Localization of Ischemic Lesions
Transient Ischemic Attacks (TIA)
Stroke Mimics
Differential Diagnosis of Stroke Mimics
Arterial Localization - (Arterial Topology/Stroke Localization)
Posterior Circulation Major Artery Strokes (Long Circumferential Arteries)
Border Zone Infarction
Multiple Infarctions
Lacunar Stroke
Small Vessel Disease
Lacunar Stroke
Retinal, Vestibular Small Vessel Diseases of the Brain
Venous Stroke
Medical Causes of Stroke
Autoimmune Disease and Stroke
Infectious Disease and Stroke
Stroke in Association with Named Vascular Syndromes
Vasculopathy
Vasoconstriction Syndromes and Stroke
Vascular Wall and Vasculopathy
Emboli and Valvular Disease
Ischemic Encephalopathy
Dilatative Arteriopathy
Stroke and Substance Abuse
Hemorrhagic Vascular Disease
Further Reading
CHAPTER 2. EPILEPSY
Overview of Epilepsy
Voltage-Gated Channel Integration
SCN1A Mutations
Potassium Channel Mutations
Calcium Channel Mutations
Epilepsy Mechanisms
Electrophysiology
Immune Seizures
Secondarily Generalized Tonic-Clonic Seizures (SPECT Imaging) Mechanisms
Cortical and Subcortical Network Analysis
Malformations of Cortical Development
Introduction to Epileptic Seizures
Differential Diagnosis of Causes of GTCS
Tonic Seizures
Localization Related Epilepsy
Temporal Lobe Epilepsy
Differential Diagnosis in Epilepsy
Further Reading
CHAPTER 3. ANTERIOR HORN CELL DISEASE
Introduction
Adult Spinal Muscular Atrophies Linked to Chromosome 5q11.12-13.3
The Spinal Muscular Atrophies
Outline of dSMA (Hereditary Distal Motor Neuropathies)
Summary of Manifestations of Distal SMA
Differential Diagnosis of the Spinal Muscular Atrophies
Differential Diagnosis of Proximal Symmetric Weakness of Childhood to Early Adulthood Versus SMA (II, III, IV)
Diagnostic Features for SMA
Diagnostic Features of Kennedy's Disease
ALS
Differential Diagnosis of the Spinal Muscular Atrophy
Differential Diagnosis of Kennedy's Disease
Differential Diagnosis of Hirayama Disease
Differential Diagnosis of Scapuloperoneal Syndrome
Differential Diagnosis of Distal SMAs
Differential Diagnosis of Fazio-Londe and Brown-Vialetto-Van Laere Syndrome
Amyotrophic Lateral Sclerosis
Further Reading
CHAPTER 4. SPINAL CORD
Overview of Spinal Cord Anatomy
Spinal Cord Disease
Congenital Spinal Defects
Hereditary Spastic Paraplegias
Congenital Bony Defects That Compromise the Spinal Cord or Root Exit Foramina
Trauma to the Vertebral Column with Spinal Cord Injury
Arterial Spinal Cord Infarction Syndromes
Hemorrhagic Disease of the Spinal Cord
Rare Vascular Spinal Cord Malformations
Epidural Cavernous Hemangioma
Spinal Cord Veno-Occlusion
Hereditary Spastic Paraplegia
Differential Diagnosis of Hereditary Forms of Spastic Paraplegia
Metabolic Disorders Affecting the Spinal Cord
Selected Toxins That Affect the Spinal Cord
Autoimmune Causes of Spinal Cord Dysfunction
Infections of the Spinal Cord
Myelitis from Bacteria, Fungal and Parasitic Diseases
Differential Diagnosis of Granulomatous Spinal Cord Disease
Meningomyelitis Caused by Fungi, Rare Organisms, and Major Parasites
Syphilis
Autoimmune Spinal Cord In ammation
Vitamin De ciencies with Spinal Cord Involvement
Spinal Cord Tumors
Primary Tumors of the Vertebral Column with Secondary Epidural Compression
Intradural Extramedullary Tumors
Metastatic Spinal Cord Tumors
Differential Diagnosis of Intrinsic Disc Disease with Spinal Cord Involvement
Further Reading
CHAPTER 5. RADICULOPATHY
Overview of Pain
General Features of Radicular Pain
Differential Diagnosis of Lumbar Radicular Pain
Differential Diagnosis of Pathologic Fractures
Disc Disease (Lumbar)
Cervical Disc Disease
Thoracic Root Disease
Lumbosacral Root Disease L1-L5; S1-S5
Epidural and Vertebral Metastasis
Differential Diagnosis of Radiculopathy
Further Reading
CHAPTER 6. PLEXUS
Cervical Plexus
The Brachial Plexus
Lumbosacral Plexus Lesions
Further Reading
CHAPTER 7. PERIPHERAL NEUROPATHY
Overview
Hereditary Peripheral Neuropathies Charcot-Marie-Tooth Disease (CMT)
Clinical Variants of CMT
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
CMT2 Autosomal Dominant Axonal Neuropathies
Seminal Manifestations of the Clinical Variants of CMT2
Dominant Intermediate CMT
X-Linked CMT Disease
Impaired Mitochondrial Physiology
Other Hereditary Motor and Sensory Neuropathies
Hereditary Sensory and Autonomic Neuropathies
Rare Hereditary Neuropathies
Hereditary Ataxias with Neuropathy
Disorders of Defective DNA Repair
Other Hereditary Neuropathies
Guillain-Barré Syndrome and Its Variants
GBS Variants
The Differential Diagnosis of AIDP
Acute Peripheral Neuropathies
Chronic In ammatory Demyelinating Polyneuropathy and Related Autoimmune Neuropathies
Systemic Vasculitis That Affect Large and Medium-Sized Vessels
Secondary Systemic Vasculitides
Differential Diagnosis of Vasculitic Neuropathy by Signs and Symptoms
Neuropathies of Systemic Disease
Neuropathies Associated with Infections
Toxic Neuropathies
Neuropathies Associated with Cancer
Tumor In ltration of Peripheral Nerve
In ltrating Tumors
Secondary Non-In ltrative Peripheral Neuropathies Associated with Lymphoproliferative Disorders and Plasmacytomas
Chemotherapy-Induced Peripheral Neuropathy (CIPN)
Endocrinopathies Associated with Neuropathy
Differential Diagnosis of DNC
Nutritional De ciencies and Neuropathy
Tumors of Peripheral Nerves
Malignant Peripheral Nerve Sheath Tumors (MPNST)
Traumatic and Compressive Neuropathies
Entrapment Neuropathies of the Lower Extremity
Unusual Entrapments Neuropathies
Non-Vasculitic Ischemic Nerve Injury
Differential Diagnosis of Neuropathy
Further Reading
CHAPTER 8. THE NEUROMUSCULAR JUNCTION
Overview
Neuromuscular Junction Disorders
Myasthenia Gravis (MG)
Defects in Endplate Development and Maintenance
Drugs/Toxins That Alter Neuromuscular Transmission
Drugs That Affect Neuromuscular Transmission
Drugs That Interfere with Neuromuscular Transmission
Further Reading
CHAPTER 9. MUSCLE DISEASES
Overview of Muscular Dystrophies
Dystrophin-Glycoprotein Complex and Related Proteins
An Overview of Muscle Contraction
Dystrophinopathies
LGMD (Limb Girdle Muscular Dystrophies)
Autosomal Dominant LGMD
Autosomal Recessive LGMD
Sarcoglycan Mutations
Congenital Muscular Dystrophy
Dystroglycanopathies
Rare Congenital Muscular Dystrophies
Regional Muscular Dystrophies
Distal Myopathy (Muscular Dystrophies)
Congenital Myopathies
Metabolic Myopathies
Disorders of Muscle Carbohydrate Metabolism
Lysosomal Glycogen Storage Myopathies
Disorders of Purine Nucleotide Metabolism
Lipid Metabolic Disorders
Mitochondrial Myopathies
Muscle Channelopathies, Non-Dystrophic Myotonias and Periodic Paralysis
Chloride Channelopathies
Sodium Channelopathies
Potassium Aggravated Myotonias
Additional Calcium Channelopathies
In ammatory Myopathies
Rarer In ammatory Myopathies
Viral Infections
Bacterial Infection of Muscle
Parasitic Infections
Differential Diagnosis of Myositis Autoantibodies
Myopathies of Systemic Disease
Rare Myopathies Associated with Systemic Disease
Toxic Myopathies
Antimicrotubular Myopathies
Drug-Induced Mitochondrial Myopathy
Drug-Induced In ammatory Myopathies
Rare Drug-Induced In ammatory Myopathies
Myopathies Due to Impaired Protein Synthesis or Increased Catabolism
Multifactorial Toxic Myopathies
Myopathies of Drug Abuse
Differential Defects of Speci c Muscles
Congenital Facial Paresis
Congenital Diaphragmatic Hernia (CDH)
Congenital Hand Muscle Abnormalities
Axial Musculature
Abdominal Musculature
Rhabdomyolysis and Myoglobinuria
Differential Diagnosis of Genetic Causes of Rhabdomyolysis and Myglobinuria
Speci c Mitochondrial Depletion Syndromes of Adults
Thymidine Kinase De ciency (Myopathic Type)
Defects of Oxidative Phosphorylation Coupling
Defects of the Mitochondrial Respiratory Chain
Defects of Mitochondrial Substrate Utilization and Gluconeogenesis
In ammatory Myopathies
Neural Disorders of Skeletal Muscle Overactivity
Metabolic Muscle Disease
Differential Diagnosis of Nondystrophic Myotonia and Periodic Paralysis
Further Reading on Muscle Diseases
CHAPTER 10. BRAINSTEM AND CRANIAL NERVES
The Regulation of Breathing
The Medullary Respiratory Center
The Dorsal Respiratory Group (DRG)
Hereditary Optic Neuropathies
Mitochondrial Protein-Import Disorders
Idiopathic Intracranial Hypertension
The Optic Chiasm
Cranial Nerve III
Cranial Nerve IV
The Vth Cranial Nerve
The Maxillary Division of V (V2)
Mandibular Division of V
The VIth Cranial Nerve
Cranial Nerve VII
Cranial Nerve VIII
An Outline of the Anatomy and Physiology of the Vestibular System
Cranial Nerve IX
Cranial Nerve X
The XIth Cranial Nerve
Cranial Nerve XII
Congenital Abnormalities of the Brainstem
Vascular Disease
Demyelinating Disease
Cerebellum Diseases
Vascular Diseases of the Cerebellum
Rare AR Cerebellar Ataxias
X-Linked Disorders That Cause Episodic Ataxia
Intermittent Ataxia from Amino Acidurias
Spastic Ataxias
Cerebellar Dysplasias
Cerebellar Ataxic Syndromes
The Differential Diagnosis of Secondary Cerebellar Disease
Further Reading
CHAPTER 11. BASAL GANGLIA AND MOVEMENT DISORDERS
Overview
Summary
Bradykinetic Disorders
The Differential Diagnosis of Parkinson's Disease
Differential Diagnosis of Parkinson's Disease
Hyperkinetic Disorders
Chorea
Neuroacanthocytosis Syndrome
Dyskinesia
Autosomal Recessive Dystonia
X-Chromosome Recessive Dystonia
Secondary Dystonia
Myoclonus
Myoclonus Classi cation by Etiology
Further Reading on Basal Ganglia and Movement Disorders
CHAPTER 12. THE CEREBRAL CORTEX
Overview
The Left Frontal Lobe
The Primary Motor Cortex (M1)
The Premotor Cortex (PMC)
The Medial Premotor Cortex (Supplementary Area BA8)
The Major Motor Loops Derived from the Cortex
The Dorsolateral Prefrontal Cortex (DLPFC)
Left Ventrolateral Prefrontal Cortex (VLPFC)
Right Ventrolateral Prefrontal Cortex (VLPFC)
The Right Frontal Lobe
The Parietal Lobe
Anterior Intraparietal (AIP) Cortex
The Putative Ventral Intraparietal Area (VIP)
The Putative Human Medial Intraparietal Area (IPA)
Putative Lateral Intraparietal Cortex (LIP)
The Putative CIP Area in Humans
General Parietal Lobe Sensory Function (Similar in Each Hemisphere)
The Temporal Lobe
The Cingulate Cortex
The Occipital Lobe
Memory and Amnesia
Aphasia
Written Language Impairments
Distributed Brain Networks
Further Reading
CHAPTER 13. DEMENTIA
Overview
Core Clinical Features of Cortical Dementias
Core Clinical Manifestations of Subcortical Dementia
Primary Dementing Illness
Progressive Language Disorder Due to Lobar Atrophy of FTD
Prion Disease
Focal Cortical Degenerations with Dementia
Cerebral Amyloid Angiopathy
Vascular Dementia
Metabolic Disease Associated with Dementia
Lysosomal Storage Disorders and Dementia
Peroxisomal Disorders
Neoplasms Causing Dementia
Chronic Traumatic Encephalopathy as a Cause of Dementia (CTE)
Vasculitic and Microangiopathic Forms of Dementia
Infectious Causes of Dementia
Further Reading
INDEX
