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Аннотация
The purpose of an exercise in differential diagnosis is to establish crosslinks between medical facts stored in different sections of our memory. 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.” - R.J. Schwartzman.
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Оглавление
- 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
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