Neurogenetics: Scientific and Clinical Advances

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ISBN: 9780824729424 | 0824729420
Cover: Hardcover
Copyright: 11/1/2005

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Children's Hospital, Philadelphia, PA. Text presents current perspectives on neurogenetic disease both from clinical and scientific perspectives. Topics include genetic testing, ethical dilemmas, gene therapy, genetic counseling, and more. For researchers and clinicians.

Foreword

iii

Preface

Contributors

xvii

Neurogenetics in the Clinic

(10)

Thomas D. Bird

Factors Suggesting a Neurogenetic Disorder

(1)

Neurogenetic Diseases ``Hiding'' in Nonspecific Categories

(1)

Importance of Family History

(2)

Assessment of Sporadic Cases

(1)

Genetic Counseling

(2)

Genetic Testing

(1)

Neurogenetics Information Resources

(1)

An Integrated Clinical Neurogenetics Strategy

(1)

References

(1)

Genetic Testing for Neurological Disorders

(16)

Martha A. Nance

Introduction

(1)

Principles of Genetic Inheritance

(3)

Genotype Changes and Their Significance in Phenotypic Appearance

(1)

Gene Mutations and Assays to Detect Them

(2)

Clinical Use of Gene Tests

(6)

Resources for the Clinician

(1)

References

(4)

Genetic Counseling

(16)

Robin L. Bennett

Introduction

(1)

Are Genetic Disorders Unique?

(3)

Who Are Genetic Counselors?

(1)

The Process of Genetic Counseling

(1)

Genetic Family History---The Pedigree

(4)

Pedigree Analysis and Risk Perception

(5)

Summary

(1)

References

(3)

Gene Therapy for Inherited Diseases of the Central Nervous System

(44)

Tyler Mark Pierson

John H. Wolfe

Introduction

(1)

General Properties of CNS Gene Therapy

(1)

Candidate Diseases for Gene Therapy in the CNS

(5)

Animal Models of Genetic CNS Disorders

(4)

Lysosomal Storage Disease: Animal Models as a Paradigm for CNS Gene Therapy

(2)

Gene Delivery Vehicles

(11)

Summary

(1)

References

(19)

Ethical Dilemmas in Neurogenetics

(20)

Wendy R. Uhlmann

Testing Minors

(1)

Testing a Child for Adoption

(2)

Testing an Adult Child When the At-Risk Parent Refuses Testing

(1)

Is There a ``Duty to Warn'' and Share Test Results with Other At-Risk Family Members?

(1)

Testing Identical Twins

(1)

Non-Disclosure of Test Results

(1)

Testing Siblings Simultaneously

(1)

Testing Individuals Who Work in Professions Where Neurological Deficits Can Jeopardize the Safety of Others

(1)

Testing Symptomatic Individuals Who Think They Are Asymptomatic

(1)

Testing ``Asymptomatic'' Individuals Who have Recently Attempted Suicide

(1)

Testing a Blood Sample from Someone Who Has Just Committed Suicide

(1)

Testing a Pregnancy

(2)

Giving Informed Consent for Individuals with Cognitive/Psychiatric Impairment

100

(1)

Insurance Issues

101

(1)

Anonymous Testing

101

(1)

Legal Cases

102

(1)

Resources

102

(1)

Summary

102

(1)

Recommended Reading

103

(1)

References

103

(4)

Autosomal Dominant Charcot-Marie-Tooth Disease and Related Disorders

107

(22)

Craig L. Bennett

Scope of This Chapter

107

(1)

CMT: Background and General Clinical Features

107

(1)

Electrophysiological Classification of CMT

108

(1)

Major Forms of Demyelinating CMT1

109

(8)

Major Forms of Demyelinating CMT2

117

(5)

Prognosis in CMT

122

(1)

Summary

122

(1)

Electronic Databases

122

(1)

References

122

(7)

Duchenne and Becker Muscular Dystrophies

129

(28)

Leta S. Steffen

Louis M. Kunkel

Introduction

129

(2)

Clinical Symptoms

131

(1)

Clinical Diagnosis

132

(2)

Clinical Treatment

134

(2)

History of the Dystrophin Discovery

136

(1)

Dystrophin---Molecular Characterization

137

(1)

Animal Models of DMD

138

(1)

Current Research for DMD/BMD Therapies

139

(6)

Conclusion

145

(1)

References

145

(12)

The Congenital and Limb-Girdle Muscular Dystrophies

157

(22)

Janbernd Kirschner

Carsten G. Bonnemann

Introduction

157

(1)

Congenital Muscular Dystrophies

158

(12)

Limb-Girdle Muscular Dystrophies

170

(3)

References

173

(6)

Non-dystrophic Myotonias and Periodic Paralyses

179

(18)

Arie Struyk

Stephen Cannon

Introduction

179

(3)

Chloride Channel Myotonias (Myotonia Congenita)

182

(2)

Sodium Channel Myotonia and Periodic Paralysis

184

(4)

Hypokalemic Periodic Paralysis

188

(3)

Andersen's Syndrome

191

(2)

Conclusions

193

(1)

References

193

(4)

The Myotonic Dystrophies---Effects of an RNA Mutation

197

(16)

John W. Day

Laura P. W. Ranum

Introduction

197

(1)

Clinical Features of the Myotonic Dystrophies

198

(3)

Genetics of the Myotonic Dystrophies

201

(3)

Molecular Pathogenesis of the Myotonic Dystrophies

204

(3)

Reports of a Third Form of Myotonic Dystrophy

207

(1)

Summary

207

(1)

References

208

(5)

Spinal Muscular Atrophy

213

(18)

Stephen J. Kolb

J. Paul Taylor

Introduction

213

(1)

Clinical Features of Autosomal Recessive SMA

214

(1)

Molecular Genetics of Autosomal Recessive SMA

215

(1)

SMA Unrelated to Mutations in SMN1

216

(1)

Basic Research on Autosomal Recessive SMA: The SMN Complex

217

(3)

Model Systems

220

(1)

Therapeutics

220

(3)

References

223

(8)

Hereditary Spastic Paraplegia

231

(30)

Kleopas A. Kleopa

Introduction

231

(1)

Clinical and Pathological Features of HSP

231

(4)

Genetics and Neurobiology of HSP

235

(12)

Diagnostic Approach and Treatment in HSP

247

(1)

Conclusion

248

(1)

References

249

(12)

Mitochondrial Disorders

261

(28)

Clotilde Lagier-Tourenne

Michio Hirano

Introduction

261

(1)

Principles of Mitochondrial Genetics

262

(2)

Primary Mitochondrial DNA Mutations

264

(1)

Nuclear DNA Mutations

265

(4)

General Features of Mitochondrial Diseases

269

(6)

Specific Mitochondrial Diseases

275

(3)

MELAS

278

(4)

References

282

(7)

Friedreich Ataxia

289

(22)

Martin B. Delatycki

Michael C. Fahey

Louise Corben

Andrew Churchyard

Introduction

289

(1)

Clinical Features

289

(3)

Pathology

292

(1)

Molecular Genetics

292

(2)

Pathogenesis

294

(2)

Management of Patients with FRDA

296

(4)

Potential Pharmacological Therapies for FRDA

300

(2)

Conclusion

302

(1)

References

302

(9)

Autosomal Dominant Ataxias

311

(46)

Susan L. Perlman

Introduction

311

(2)

The Typical Dominant Ataxias

313

(1)

SCA1

314

(12)

SCA2

326

(2)

SCA3

328

(1)

SCA4

329

(1)

SCA5

330

(1)

SCA6

330

(2)

SCA7

332

(1)

SCA8

333

(2)

SCA9

335

(1)

SCA10

335

(1)

SCA11

336

(1)

SCA12

336

(1)

SCA13

337

(1)

SCA14

337

(1)

SCA15

338

(1)

SCA16

339

(1)

SCA17

339

(2)

SCA18

341

(1)

SCA19

341

(1)

SCA20

342

(1)

SCA21

343

(1)

SCA22

343

(1)

SCA23

344

(1)

SCA24

344

(1)

SCA25

344

(1)

SCA26

345

(1)

SCA Due to FGF14

345

(1)

Conclusion

346

(1)

References

346

(11)

Huntington's Disease: Mechanisms of Pathogenesis and Development of New Therapies

357

(26)

Blair R. Leavitt

Lynn A. Raymond

Clinical, Pathologic, and Genetic Features of Huntington's Disease

357

(4)

Animal Models of HD

361

(3)

Pathogenesis of HD

364

(5)

Preclinical Trials in Mouse Models of HD

369

(1)

Clinical Trials in HD

370

(3)

Conclusions

373

(1)

References

373

(10)

Wilson's Disease

383

(20)

George J. Brewer

Introduction and Historical Overview

383

(1)

Pathophysiology

384

(1)

Genetics and Epidemiology

384

(2)

Clinical Presentations

386

(3)

Recognition, Screening, and Diagnosis

389

(3)

Treatment with Anticopper Drugs

392

(4)

Prognosis

396

(1)

References

397

(6)

Neurogenetics of Dystonia and Paroxysmal Dyskinesias

403

(24)

Jennifer Friedman

David G. Standaert

Dystonia

403

(4)

Genetics of Primary Dystonias

407

(3)

Genetics of Dystonia Plus Syndromes

410

(5)

Genetics of Paroxysmal Dystonias and Dyskinesias

415

(2)

References

417

(10)

Inherited Epilepsies

427

(42)

Yr Sigurdardottir

Annapurna Poduri

Introduction

427

(1)

Channelopathies

428

(12)

Myoclonic Epilepsies

440

(8)

Generalized Epilepsy Syndromes

448

(2)

Localization-Related Epilepsy Syndromes

450

(2)

Conclusion

452

(1)

References

452

(17)

Leukodystrophies

469

(86)

James Y. Garbern

Introduction

469

(1)

Disorders of Myelin Lipid Metabolism

470

(48)

Closing Thoughts

518

(1)

Resources

518

(1)

References

519

(36)

Lysosomal Storage Disorders

555

(28)

David A. Wenger

Stephanie Coppola

Introduction

555

(1)

General Concepts

556

(2)

Clinical Features that Suggest a LSD

558

(6)

Diagnosis of LSDs

564

(8)

Treatment of LSDs

572

(5)

References

577

(6)

The Tuberous Sclerosis Complex: Clinical Manifestations and Molecular Genetics

583

(16)

John R. Pollard

Peter B. Crino

Clinical Features of TSC

583

(2)

Neurological Manifestations

585

(1)

Neuropathology

586

(1)

Genetics

587

(2)

Signaling Pathway and Cell Biology

589

(3)

Conclusion

592

(1)

References

593

(6)

Neurofibromatosis

599

(22)

Amit Malhotra

James Dowling

David H. Gutmann

Introduction

599

(1)

Neurofibromatosis 1

600

(9)

Clinical Features of Neurofibromatosis 2

609

(3)

References

612

(9)

Genetics of Parkinson's Disease

621

(22)

Sathya R. Sriram

Valina L. Dawson

Ted M. Dawson

Introduction

621

(1)

Genes Linked to Familial PD

622

(11)

Clinical Testing for Genetic Forms of PD

633

(1)

Conclusion

634

(1)

References

634

(9)

Alzheimer's Disease

643

(20)

R. Scott Turner

Introduction

643

(1)

Epidemiology

643

(1)

Clinical Criteria

644

(1)

Pathologic Criteria

644

(2)

Risk Factors

646

(1)

Genetics of Familial AD

647

(4)

Genetics of Sporadic (Late-Onset) Alzheimer's Disease

651

(1)

The Amyloid Hypothesis

652

(1)

Genetic Testing

653

(1)

Current Treatment Strategies

654

(1)

Future Treatment Strategies

655

(2)

Perspectives

657

(1)

References

658

(5)

Tauopathies

663

(30)

John C. van Swieten

Introduction

663

(1)

Tau Gene---Tau Protein

663

(2)

Frontotemporal Dementia

665

(1)

FTDP-17

666

(5)

Pathology of FTDP-17

671

(9)

Conclusions

680

(1)

References

681

(12)

Amyotrophic Lateral Sclerosis

693

(36)

Teepu Siddique

Lisa Dellefave

ALS Background

693

(10)

Approaches to Mendelian Inherited ALS

703

(3)

Understanding ALS Pathophysiology Through Mendelian Inherited ALS

706

(8)

Approaches to SALS as a Genetically Complex or Multifactorial Disorder

714

(3)

Clinical Management

717

(1)

Remaining Questions to Be Answered

718

(1)

References

719

(10)

Prion Diseases

729

(20)

William S. Baek

James A. Mastrianni

Introduction

729

(1)

Historical Background

729

(1)

Prion Protein (PrP) and the Prion Concept

730

(1)

Pathogenesis of Prions

731

(1)

Transmissible Properties of Prions

732

(1)

Epidemiology

733

(1)

Mutations of PRNP Cause Familial PrD

733

(2)

PRNP Polymorphisms

735

(1)

Prion-Like Protein Gene (Prnd)

736

(1)

The Phenotypes of PrD

737

(3)

Diagnosis of Prion Disease

740

(1)

Diagnostic Studies

741

(1)

Treatment

741

(1)

References

741

(8)

Index

749

(8)

About the Editor

757

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Neurogenetics: Scientific and Clinical Advances

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