Front Cover

Hyperkinetic Movement Disorders

Copyright

Handbook of Clinical Neurology 3rd Series

Foreword

Preface

Dedication

List of Contributors

Contents

Section 1: Choreoathetoid Diseases and Syndromes

Chapter 1: Huntington’s disease – clinical signs, symptoms, presymptomatic diagnosis, and diagnosis

History

Clinical Manifestations Of huntington's Disease

Juvenile-onset Hd

The Course of Hd

Neurophysiology and Neuroimaging

Diagnosis of Hd

Presymptomatic (predictive) Testing

Summary

References

Chapter 2: Huntington’s disease

Introduction

Epidemiology

Genetics and Disease Mechanism

Brain Imaging Findings

Neurological Symptoms

Cognitive Symptoms

Psychiatric Symptoms

Treatment

References

Chapter 3: Molecular biology of Huntington’s disease

Introduction

Huntington's Disease Genetics

Hd Gene Mapping and Identification

The huntingtin (Htt) Gene

Htt Gene Conservation

Htt Gene Promoter and Its Regulation

Bidirectional Expression Across a Triplet Cag Repeat

Cag Repeat Variability - the Disease-causing Mutation

Instability of Cag Repeat and Anticipation

Age of Onset Variability

Hd Mutation as a Gain Or Loss Of function?

Htt MRna Expression and Localization

Animal Models of Hd

Huntingtin Protein

Protein Expression and Localization

Nuclear Localization of Huntingtin

Posttranslational Modifications Alter Htt Function

Proteolytic Processing of Htt

Protein Functions

Interaction Partners

Potential Pathogenic Mechanisms

Conclusion

References

Chapter 4: Huntington’s disease – neuropathology

Introduction

Organization of the Basal Ganglia System

Neuropathology

Clinicopathological Correlation: Juvenile Versus Adult-onset Hd

The Occurrence of Features Attributed to Usual Aging in Huntington Disease Brains

Phenocopies of Huntington Disease

Acknowledgments

References

Chapter 5: Huntington’s disease look-alikes

Huntington's Disease

Huntington's Disease-like Syndromes

Other Genetic Causes of Chorea

Nongenetic Causes of Chorea

Approach to a Patient With Chorea

References

Chapter 6: Spinocerebellar degenerations

Introduction

Dominantly Inherited Ataxias

The Typical Dominant Ataxias

Recessive Ataxias: Most Common types

X-linked Ataxias: Most Common types

Sporadic Ataxias

References

Chapter 7: Neuroacanthocytosis

Introduction

Chorea-Acanthocytosis

Mcleod Syndrome

Huntington's Disease-like 2 (Chapter 5)

Pantothenate Kinase-associated Neurodegeneration (Chapter 5)

Other Movement Disorders With Acanthocytosis

Therapy

Summary

References

Chapter 8: Dentatorubral pallidoluysian atrophy

Introduction

Epidemiology

Clinical Features

Imaging

Genetics

Pathology

Haw River Syndrome

Differential Diagnosis

Treatment

Conclusion

References

Chapter 9: Neurodegeneration with brain iron accumulation

Introduction and Overview

Neuroferritinopathy

Aceruloplasminemia (hereditary Ceruloplasmin Deficiency)

Pantothenate Kinase-associated Neurodegeneration

Infantile Neuroaxonal Dystrophy

Idiopathic Nbia

A Clinical Approach to Suspected Nbia

Acknowledgments

References

Chapter 10: Movement disorders and mitochondrial disease

Introduction

Leigh Syndrome and Leigh-like Syndrome

Leber's Hereditary Optic Neuropathy

Mohr-Tranebjaerg Syndrome

Myoclonus Epilepsy With Ragged-red Fibers

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes

Dna Polymerase Gamma And twinkle

Conclusions

References

Chapter 11: Acquired hepatocerebral degeneration

Introduction and Historical note

Clinical Manifestations

Etiology

Pathophysiology and Pathological Findings

Imaging

Management

Conclusion

References

Chapter 12: Benign hereditary chorea

Introduction

Historical Perspective

Epidemiology

Classic Bhc

Bhc - Entity Or Syndrome? the Queen Square Assessment

Genetics

Brain-thyroid-lung Syndrome

Clinical Spectrum of Neurological Symptoms in Gene-positive Cases

Conclusions

References

Chapter 13: Senile chorea

Incidence

Etiology

Basal Ganglia Mineralization

Investigation of Late-onset Chorea

Treatment

Conclusion

References

Section 2: Immune-related Chorea

Chapter 14: Sydenham’s chorea

Introduction

Epidemiology

Clinical Features

Etiology and Pathogenesis

Diagnosis

Prognosis and Complications

Management

Prevention

References

Chapter 15: Chorea gravidarum

Introduction

Epidemiology

Clinical Characteristics

Etiology

Pathophysiology

Evaluation

Treatment

Conclusion

References

Chapter 16: Antiphospholipid syndrome and other lupus-related movement disorders

Antiphospholipid Syndrome

Clinical Features

Diagnosis of Aps

Risk Factors

Treatment

Chorea and Aps

Aps in Association With Sle

Conclusion

References

Section 3: Vascular-related Chorea

Chapter 17: Hemiballismus

Introduction

Pathophysiology

Etiology

Clinical Features

Prognosis

Therapy

References

Chapter 18: Vascular chorea in adults and children

Introduction

Clinical Description

Epidemiology

Neuroanatomy

Etiology

Pathophysiology of Vascular Chorea

Differential Diagnosis

Brain Imaging

Prognosis

Treatment of Vascular Chorea

Conclusion

References

Chapter 19: Polycythemia and chorea

Introduction

Epidemiology, Diagnosis, Genetics, and Environmental Risk Factors of Polycythemia Vera

Clinical Manifestations

Neurologic Sequelae/polycythemia-induced Movement Disorders

Pathophysiology/anatomy of Pv-induced Chorea

Imaging and Movement Disorders with Pv

Treatment of Pv-induced Movement Disorders

Summary

References

Section 4: Metabolic Disturbances

Chapter 20: Hyperthyroid chorea

Introduction

Epidemiology

Clinical Features

Chorea: Onset, Severity and Distribution

Pathophysiology

Conclusion

References

Chapter 21: Hyperglycemic nonketotic states and other metabolic imbalances

Chorea Associated With Nonketotic Hyperglycemia

Hypoglycemia

Calcium Disorders

Hypernatremia

References

Section 5: Chorea in Other Medical Settings

Chapter 22: Postoperative encephalopathy with choreoathetosis

Introduction

Surgical Repair of Congenital Heart Disease

Postoperative Development Of choreoathetosis

Diagnostic Evaluation of Postpump Choreoathetosis

Treatment of Postpump Choreoathetosis

Risk Factors for Development Of postpump Choreoathetosis

Theories of Pathogenesis

Neurologic Outcomes of Children With Postpump Choreoathetosis

Alternative Surgical Techniques and Neuroprotective Strategies

Conclusion

References

Chapter 23: Movement disorders in patients with multiple sclerosis

Introduction

Movement Disorders in Multiple sclerosis

Conclusion

References

Chapter 24: Paraneoplastic syndromes causing movement disorders

Introduction

General Concepts

Sensory Neuronopathy and Pseudoathetoid Movements

Encephalomyelitis and Chorea

Brainstem Encephalitis And hypokinesis

Encephalitis With Stereotyped Complex Movements and Nmda Receptor Antibodies

Paraneoplastic Cerebellar Degeneration and Tremor

Opsoclonus-myoclonus

Stiff-person Syndrome

Neuromyotonia Or Isaacs' Syndrome

Management of Paraneoplastic Syndromes

References

Chapter 25: Hyperkinetic movement disorders associated with HIV and other viral infections

Introduction

Hiv and Aids

Hyperkinetic Movement Disorders in Hiv-infected Patients

Chorea and Hemichorea-hemiballism

Dystonia

Tremor

Myoclonus

Neuroimaging

Pathogenetic Mechanisms

Other Viral Infections Associated With Hyperkinetic Movement Disorders

EncephalItis Lethargica

Flavivirus Infections

West Nile Virus

Japanese Encephalitis Virus

Herpes Simplex Encephalitis

Prion Diseases

Kuru

Creutzfeldt-jakob Disease

Acknowledgment

References

Chapter 26: Chorea caused by toxins

Introduction

Drugs of Abuse

Conclusion

Acknowledgment

References

Chapter 27: Drug-induced hyperkinetic movement disorders by nonneuroleptic agents

Introduction

Chorea

Dystonia

Tics

Tremor

Myoclonus

Conclusion

References

Section 6: Other Syndromes

Chapter 28: Paroxysmal choreodystonic disorders

Introduction

Paroxysmal Kinesigenic Dyskinesia

Paroxysmal Nonkinesigenic Dyskinesia

Paroxysmal Exertion-induced Dyskinesia

References

Chapter 29: Painful legs and moving toes

Introduction

Clinical and Electrophysiologic Features

Localization and Associated Conditions

Differential Diagnosis

Treatment

References

Section 7: Athetosis

Chapter 30: Birth-related syndromes of athetosis and kernicterus

Introduction

Clinical Features of Athetosis

Etiology of Athetosis

Bilirubin Encephalopathy

Athetoid Cerebral Palsy

Conclusion

References

Section 8: Myoclonus

Chapter 31: Myoclonus

Introduction

Clinical Classification and Etiologies

Physiological Characteristics

Animal Model

Evaluation

Therapy

References

Chapter 32: Startle syndromes

The Normal Human Startle reflex

Startle Syndromes

Hyperekplexia

Startle Epilepsy

Neuropsychiatric Startle Syndromes

Conclusion

References

Section 9: Essential Tremor

Chapter 33: Essential tremor

Introduction: a Changing Landscape

Tremor in Human History And origins of the Term essential Tremor

Epidemiology and Genetics

Pathophysiology

Clinical Presentation and Natural History

Diagnosis

Conclusion

Acknowledgment

References

Chapter 34: Management of essential tremor, including medical and surgical approaches

Severity Assessment of Essential tremor

Approach to Treatment

Psychological and Social Support

Alternative Measures and Lifestyle Changes

Conclusions

References

Chapter 35: Orthostatic tremor – a review

Introduction

Clinical Spectrum of Orthostatic Tremor - Syndromic Associations

Progression

Differential Diagnosis

Pathophysiology

Treatment

Summary

References

Section 10: Dystonia

Chapter 36: Early-onset primary dystonia

History

Clinical Features

Early-onset Primary Dystonia

Dyt-1 (Tor1A) Early-onset Dystonia

Early-onset Primary Dystonia, Non-Dyt1

Early-onset Primary Dystonia - Autosomal-recessive

Pathophysiology of Dystonia

Diagnosis

Treatment

Conclusion

References

Chapter 37: Adult-onset dystonia

Introduction

Epidemiology of Focal Dystonia

Cranial Dystonia (blepharospasm-oromandibular Dystonia Syndrome)

Cervical Dystonia

Writer's Cramp Dystonia

Neuroanatomy and Neurophysiology

Pathology of Primary Focal Dystonias

Treatment

Future and Summary

Acknowledgment

References

Chapter 38: Nonprimary dystonias

Classification of Dystonias

Prevalence

Secondary Dystonias

Dystonia-plus Syndromes (chapters 39-41)

Heredodegenerative Dystonia

Diagnosis of Nonprimary Dystonias

Treatment of Nonprimary Dystonias

References

Chapter 39: Dopa-responsive dystonia

Introduction

Autosomal-dominant Gtp Cyclohydrolase 1 Deficiency (segawa Disease): Dominant Dyt5

Recessive Deficiency of the Enzymes of Pteridine Metabolism

Recessive Tyrosine Hydroxylase Deficiency

DyT14

Juvenile Parkinsonism, Parkinsonism-dystonia Complex

Summary

References

Chapter 40: Rapid-onset dystonia-parkinsonism

Clinical Presentation

Molecular Genetics

Other Diagnostic Testing

Differential Diagnosis

Natural History

Management

References

Chapter 41: Myoclonus-dystonia syndrome

Introduction

Inherited Myoclonus-dystonia

Primary Dystonias With Myoclonus ("myoclonic Dystonia")

Autosomal-dominant Gtpch Deficiency (dyt5 Dystonia)

Vitamin E Deficiency

Differential Diagnosis

References

Section 11: Tardive Dyskinesia

Chapter 42: Typical and atypical neuroleptics

Introduction

From the History of Psychotropic Drugs to Tardive Dyskinesia

Definition and Clinical Overview

Epidemiology and Risk Factors

Pathophysiology

Treatment and Management

References

Chapter 43: Epidemiology of tardive dyskinesia before and during the era of modern antipsychotic drugs

Introduction

Epidemiology of Tardive Dyskinesia Risk With Older Neuroleptics

Risk Factors for Tardive Dyskinesia

Epidemiology of Tardive Dyskinesia in the Era of Modern antipsychotics

Is Risk of Tardive Dyskinesia Declining?

Effects of Expanding Applications of Modern Antipsychotics

Conclusions

Acknowledgments

References

Chapter 44: Unusual focal dyskinesias

Introduction

Ear Dyskinesias

Lip, Chin, and Jaw Dyskinesias

Focal Tongue Dyskinesias

Belly Dancer's Dyskinesia

Back Dyskinesias

Scapula Dyskinesias

Limb Dyskinesias

Painful Legs and Moving Toes

Movements of Amputation Stumps

Summary

References

Section 12: Tics

Chapter 45: Stereotypic movement disorders

Introduction

Definition

Clinical Characteristics

Differentiating Stereotypies

Classification

Pathophysiology

Therapy

Conclusion

References

Chapter 46: Tourette syndrome and other tic disorders

Historical Features

Phenomenology of Tics

Tic Characteristics

Tic Diagnoses

Course of Tics

Associated Behaviors

Treatment of Tics

Etiology

Neurobiology

References

Section 13: Other Syndromes

Chapter 47: Restless legs syndrome

Description and Epidemiology

Health-related Significance Of restless Legs Syndrome

Genetics of Restless Legs Syndrome

The Significance of Periodic Limb Movements of Sleep

Pathophysiology of Rls/Plms

Localization of Rls Pathology Within the Nervous System

Treatment

Treatment Complications

Treatment in Special Clinical Situations

References

Chapter 48: Hemifacial spasm

Epidemiology

Clinical Features

Etiology

Pathophysiology

Investigations

Differential Diagnosis

Treatment

References

Chapter 49: Wilson’s disease

Historical Aspects

Genetics

Epidemiology

Pathophysiology

Clinical Features

Diagnostic Evaluation of Wd

Diagnostic Testing Guidelines

Treatment

Treatment Guidelines

References

Chapter 50: Task-specific tremor

Definition

Primary Writing Tremor

Other Task-specific Tremors

Conclusion

References

Chapter 51: Hyperkinetic psychogenic movement disorders

Introduction

Terminology

Epidemiology

Diagnosis

Psychogenic Tremor

Psychogenic Dystonia

Psychogenic Myoclonus

Other Psychogenic Hyperkinetic Movement Disorders

Psychiatric Diagnoses in Pmd

Pathophysiology

Treatment

Prognosis

References

Index