Genetics of Movement Disorders
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Table of contents
- Cover
- Contentsvii
- Contributorsxv
- Forewordxix
- Prefacexxi
- Chapter 1. Introduction to Medical Genetics and Methods of DNA Testing1
- I. Concepts and Terminology2
- II. Patterns of Inheritance2
- III. Molecular Genetic Tools11
- IV. Molecular Genetic Testing14
- V. Animal Models15
- VI. Web-Based Information for Genetic Diagnosis and Testing16
- References17
- Chapter 2. Inherited Ataxias: An Introduction19
- I. Classification19
- II. Recently Identified Ataxias22
- III. Worldwide Prevalence23
- IV. Mechanisms of Disease25
- V. Genotype/Phenotype Correlations and Modifying Loci29
- VI. Progression and Treatment30
- References30
- Chapter 3. Spinocerebellar Ataxia 1 (SCA1)35
- I. Summary35
- II. SCAl„The Phenotype35
- III. The SCA1 Gene36
- IV. Models of Disease38
- V. Treatment41
- References41
- Chapter 4. Spinocerebellar Ataxia 2 (SCA2)45
- I. Summary45
- II. Phenotype45
- III. Normal and Abnormal Gene Function47
- IV. Diagnosis50
- V. Neurophysiology51
- VI. Neuroimaging51
- VII. Neuropathology51
- VIII. Animal Models51
- IX. Genotype/Phenotype/Modifying Alleles52
- X. Treatment53
- References53
- Chapter 5. Spinocerebellar Ataxia 3„Machado-joseph Disease (SCA3)57
- I. Historical Introduction57
- II. Prevalence of MJD58
- III. Phenotype58
- IV. Diagnosis60
- V. Neuropathology61
- VI. Molecular Genetics62
- VII. Phenotype-Genotype Correlation62
- VIII. Pathogenic Mechanisms and Models63
- IX. Treatment65
- References65
- Chapter 6. Spinocerebellar Ataxia Type 4 (SCA4)71
- I. Summary71
- II. Phenotype71
- III. Gene Locus71
- IV. Diagnostic and Ancillary Tests72
- V. Neuropathology72
- VI. ADCCA or Pure Cerebellar Ataxia Linked to SCA4 Locus72
- References73
- Chapter 7. Spinocerebellar Ataxia 5 (SCA5)75
- I. Introduction75
- II. Anticipation77
- III. Genetic and Physical Mapping77
- IV. Repeat Expansion Detection and Rapid Cloning78
- V. Clinical Features78
- VI. Neuroimaging and Neuropathology79
- VII. Conclusions79
- References80
- Chapter 8. Spinocerebellar Ataxia 6 (SCA6)81
- I. Introduction81
- II. Clinical Features81
- III. Genetics81
- IV. Diagnosis82
- V Molecular Pathogenesis82
- VI. Neuropathology83
- VII. Animal Models83
- VIII. Treatment83
- References83
- Chapter 9. Spinocerebellar Ataxia 7 (SCA7)85
- I. Summary85
- II. Phenotype85
- III. Gene86
- IV. Diagnostic and Ancillary Tests87
- V Neuroimaging88
- VI. Neuropathology88
- VII. Cellular and Animal Models of Disease89
- VIII. Genotype/Phenotype Correlations/Modifying Alleles90
- IX. Treatment91
- X. Conclusion91
- References92
- Chapter 10. Spinocerebellar Ataxia 8 (SCA8)95
- I. Summary95
- II. Phenotype95
- III. Gene96
- IV. Diagnostic and Ancillary Tests97
- V. Cellular and Animal Models of Disease98
- VI. Genotype/Phenotype Correlation and Modifying Alleles98
- VII. Treatment101
- References101
- Chapter 11. Spinocerebellar Ataxia 10 (SCA10)103
- I. Summary103
- II. Phenotype103
- III. The SCA 10 Gene104
- IV. Instability of the Expanded ATTCT Repeat108
- V. Diagnosis108
- VI. Genotype-Phenotype Correlation110
- VII. Population Genetics111
- VIII. Models and Disease Mechanism of the ATTCT Expansion111
- IX. Treatment113
- References113
- Chapter 12. Spinocerebellar Ataxia 11 (SCA11)117
- I. Summary117
- II. Phenotype117
- III. Gene118
- IV. Neuroimaging and Ancillary Tests119
- References119
- Chapter 13. Spinocerebellar Ataxia 12 (SCA12)121
- I. Introduction121
- II. Phenotype of SCA12122
- III. Normal and Abnormal Gene Function123
- IV. Diagnosis128
- V. Treatment130
- References130
- Chapter 14. Spinocerebellar Ataxia 13, 14, and 16133
- I. Summary133
- II. Phenotype134
- III. Gene134
- IV. Diagnostic and Ancillary Tests136
- V. Neuroimaging136
- VI. Neuropathology136
- VII. Cellular and Animal Models of Disease137
- VIII. Genotype/Phenotype Correlation/Modifying Alleles137
- IX. Treatment137
- References137
- Chapter 15. Spinocerebellar Ataxia 17 (SCA17)139
- I. Summary139
- II. Phenotype139
- III. Gene140
- IV. Diagnosis140
- V. Neuropathology140
- VI. Neuroimaging140
- VII. Cellular and Animal Models of Disease140
- VIII. Treatment140
- References140
- Chapter 16. Dentatorubral-Pallidoluysian Atrophy (DRPLA)143
- I. Phenotype143
- II. Molecular Genetics of DRPLA144
- III. Diagnostic and Ancillary Tests145
- IV. Cellular and Animal Models of Disease146
- V. Treatment148
- References148
- Chapter 17. Ataxia in Prion Diseases151
- I. The PRNP Gene and Protein Products151
- II. Phenotypes153
- III. Diagnostic and Ancillary Tests159
- IV. Cellular and Animal Models of Disease160
- V. Treatment and Management161
- References161
- Chapter 18. Friedreich Ataxia165
- I. Summary165
- II. Phenotype165
- III. Gene169
- IV. Diagnostic and Ancillary Tests170
- V. Pathology173
- VI. Cellular and Animal Models of Disease174
- VII. Genotype/Phenotype Correlations/Modifying Alleles174
- VIII. Treatment174
- References175
- Chapter 19. Familial Ataxia with Isolated Vitamin E Deficiency (AVED)179
- I. Introduction179
- II. Phenotype180
- III. Gene181
- IV. Diagnostic and Ancillary Tests183
- V. Cellular and Animal Models of the Disease184
- VI. Genotype/Phenotype Correlations„Modifying Alleles185
- VII. Treatment185
- References185
- Chapter 20. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS/SACS)„No Longer a Lo189
- I. Phenotype189
- II. Gene191
- III. Diagnostic and Ancillary Tests191
- IV. Neuroimaging192
- V. Neuropathology192
- VI. Genotype/Phenotype Correlations192
- References193
- Chapter 21. Ataxia-Telangiectasia195
- I. Phenotype195
- II. ATM Gene and Function Based on Human Data197
- III. Biochemical Targets of ATM Kinase Activity197
- IV. Diagnosis198
- V. Cellular and Animal Models of the Disease198
- VI. Animal Models of A-T200
- VII. Genotype/Phenotype Correlations201
- VIII. Treatment202
- IX. Syndromes Related to A-T202
- References202
- Chapter 22. Episodic and Intermittent Ataxias205
- I. Clinical Features205
- II. Genetics207
- III. Diagnosis208
- IV. In Vitro and In Vivo Models209
- V. Treatment210
- References211
- Chapter 23. Multiple System Atrophy213
- I. Introduction213
- II. Clinical Features214
- III. Diagnosis of MSA217
- IV. Neuroimaging220
- V. Pathology of MSA223
- VI. Epidemiology and Environmental Risk Factors224
- VII. Genetics225
- VIII. Management and Treatment226
- References226
- Chapter 24. Metabolic and Mitochondrial Ataxias231
- I. Ataxia in Mitochondrial Disorders231
- II. Ataxia in Lipid Disorders237
- III. Ataxia in Lysosomal Disorders240
- IV Ataxias Associated with Other Metabolic Disorders244
- References248
- Chapter 25. Diagnostic Evaluation of Ataxic Patients253
- I. Defining the Neurologic Phenotype in Patients with Ataxia as the Primary Symptom254
- II. Determining whether the Disease is Genetic263
- References267
- Chapter 26. Parkinson's Disease: Genetic Epidemiology and Overview273
- I. Introduction273
- II. The Clinical and Pathological Features of Parkinson's Disease274
- III. Diagnosis of Parkinson's Disease274
- IV. The Treatment of Parkinson's Disease275
- V. Challenges Investigating the Etiology of Parkinson's Disease275
- VI. Studies of Familial Aggregation276
- VII. Twin Studies280
- VIII. Single Gene Associations281
- IX. Conclusion283
- References283
- Chapter 27. PARK1 and α-Synuclein: A New Era in Parkinson's Research287
- I. Introduction287
- II. The Contursi Kindred288
- III. The Clinical Phenotype of the A53T Mutation289
- IV. Parkinsonism Due to a A30P Mutation291
- V. Gene Function292
- VI. Aggregation of α-Synuclein294
- VII. Diagnosis298
- VIII. Neuroimaging298
- IX. Animal Models of α-Synucleinopathies298
- X. Is the A53T Phenotype Parkinson's Disease?299
- XI. Treatment300
- XII. Conclusions300
- References300
- Chapter 28. Parkin Mutations (Park2)305
- I. Introduction305
- II. Gene306
- III. Diagnostic and Ancillary Tests308
- IV. Neuroimaging311
- V. Neuropathology311
- VI. Cellular and Animal Models312
- VII. Genotype and Phenotype Correlations/Modifying Alleles312
- VIII. Treatment312
- References312
- Chapter 29. PARK3, Ubiquitin Hydrolase-L1 and Other PD Loci315
- I. PARK3315
- II. PARK4316
- III. PARK5317
- IV. PARK6317
- V. PARK7319
- VI. PARK8 and PARK9319
- VII. Other Linked PD Loci319
- References321
- Chapter 30. tau Genetics in Frontotemporal Lobe Dementia, Progressive Supranuclear Palsy, and Cortic325
- I. Introduction325
- II. Anatomy of the tau Gene326
- III. tau Genetics and Molecular Function329
- IV Clinical Phenotypes Caused by tau Gene Mutations331
- V. Clinical Genetics in FTD, PSP, and CBD333
- VI. tau Genetics and Transgenic Models of Disease335
- VII. Treatment335
- References336
- Chapter 31. Wilson Disease341
- I. Introduction341
- II. Phenotype341
- III. Normal and Abnormal Gene Function343
- IV Diagnosis346
- V. Neuroimaging346
- VI. Pathologic Anatomy348
- VII. Animal Models348
- VIII. Treatment348
- References350
- Chapter 32. Essential Tremor353
- I. Phenotype353
- II. Gene355
- III. Diagnostic and Ancillary Tests356
- IV Neuroimaging356
- V. Neuropathology357
- VI. Cellular and Animal Models of Disease357
- VII. Genotype/Phenotype Correlations/Modifying Alleles358
- VIII. Treatment358
- References360
- Chapter 33. Molecular Biology of Huntington's Disease (HD) and HD-Like Disorders365
- I. Summary365
- II. Symptomatology of HD366
- III. Neuropathology366
- IV. Neuroimaging366
- V. Genetics of HD367
- VI. Diagnostic and Predictive Testing368
- VII. Gene, Normal Gene, and Abnormal Gene Function369
- VIII. Huntingtin Aggregates370
- IX. Cell Death in HD372
- X. Early Changes in Gene Expression374
- XI. Excitotoxicity and Impaired Energy Production374
- XII. Animal Models375
- XIII. Genotype/Phenotype/Modifying Alleles375
- XIV. Treatment376
- XV. HD-Like Disorders376
- References377
- Chapter 34. Paroxysmal Dyskinesias385
- I. Historical Aspects and Classification385
- II. Pathophysiology390
- III. Future Directions391
- IV. Concluding Summary391
- References392
- Chapter 35. Primary Dystonias395
- I. Autosomal Dominant Dystonias397
- II. Autosomal Recessive Dystonias400
- III. X-Linked Recessive Dystonias400
- IV. Animal Models of Dystonia402
- References403
- Chapter 36. DYT1 Dystonia407
- I. Summary407
- II. Phenotype407
- III. Gene409
- IV. Diagnostic and Ancillary Tests413
- V. Neuroimaging413
- VI. Neuropathology413
- VII. Cellular and Animal Models of Disease414
- VIII. Treatment414
- References415
- Chapter 37. Dopa-Responsive Dystonia419
- I. Introduction419
- II. Phenotype and Treatment420
- III. Causative Gene420
- IV. Diagnosis422
- V. Genotype/Phenotype Correlation423
- VI. Mechanism of Dominant Inheritance424
- VII. The Mechanism of Neuronal Selectivity„A Study with an Animal Model of Biopterin Deficiency424
- References426
- Chapter 38. Hallervorden-Spatz Syndrom429
- I. Introduction429
- II. Phenotype429
- III. Gene433
- IV. Diagnostic and Ancillary Tests434
- V. Cellular and Animal Models of Disease437
- VI. Genotype/Phenotype Correlations/Modifying Alleles437
- VII. Treatment438
- References439
- Chapter 39. Genetics of Familial Idiopathic Basal Ganglia Calcification (FIBGC)443
- I. Clinical Phenotype443
- II. Genetics444
- III. Diagnostic and Ancillary Tests444
- IV. Neuroimaging446
- V. Neuropathology447
- VI. Pathogenesis and Models of Disease447
- VII. Genotype-Phenotype Correlations448
- VIII. Treatment448
- References448
- Chapter 40. Myoclonus and Myodonus-Dystonias451
- I. Summary451
- II. Phenotype452
- III. Gene(s)460
- IV. Diagnostic and Ancillary Tests464
- V. Neuroimaging465
- VI. Neuropathology465
- VII. Cellular and Animal Models of Disease465
- VIII. Genotype/Phenotype Correlations465
- IX. Treatment469
- References470
- Chapter 41. Mitochondrial Mutations in Parkinson's Disease and Dystonias473
- I. Mitochondrial Genetics474
- II. Parkinson's Disease474
- III. Dystonia480
- IV. Treatment Implications482
- V. Conclusions483
- References483
- Chapter 42. Genetics of Gilles de la Tourette Syndrome491
- I. The GTS Phenotype491
- II. GTS is Heritable492
- III. Segregation Analyses of GTS Family Data493
- IV. The Search for Genes in GTS494
- V. Cytogenetic and Molecular Cytogenetic Approaches496
- VI. Neuroimaging497
- VII. Treatment497
- VIII. Summary and Future Prospects497
- References498
- Chapter 43. The Genetics of Restless Legs Syndrome503
- I. Introduction503
- II. Clinical Features503
- III. Prevalence and Progression504
- IV. Genetic Studies504
- V. Diagnosis506
- VI. Neuroimaging and Neurophysiological Studies507
- VII. Treatment507
- VIII. Summary508
- References508
- Chapter 44. Other Adult-Onset Movement Disorders with a Genetic Basis511
- I. Inborn Errors of Metabolism511
- II. Disorders of Heavy Metal Metabolism518
- III. Movement Disorders Associated with Hematological Disease520
- IV. Other Rare Disorders531
- V Summary533
- References533
- Chapter 45. Ethical Issues in Genetic Testing for Movement Disorders541
- I. Introduction541
- II. Understanding the Role of Molecular Diagnostics in the Management of Neurological Disorders542
- III. Ethical Principles545
- IV. Conclusions549
- References549
- Index551
Hereditary or genetic diseases featuring involuntary movements constitute a major aspect of the practice of neurology, functional neurosurgery, genetics, and many areas of basic and applied neuroscience research. Describing the current knowledge on these disorders, Genetics of Movement Disorders brings together information essential for clinicians, geneticists, and neuroscientists in one source. Utilizing a convenient and accessible format, the book is designed to allow easy identification of relevant information, with the overall organization of topics following established phenotypic classifications of movement disorders such as Parkinsonian syndromes, chorea, ataxia, and major categories of diseases grouped by gene locus. This book broadly appeals to neurologists, neuroscientists, geneticists, as well as cell and molecular biologists and hematologists.
Key Features
* Consistently formatted to present a clinical description of the disorder, followed by an in-depth analysis of the mutation and function of the mutated gene including cellular and animal models
* Emphasizes the use of DNA tests for each respective disorder
* Provides up-to-date, easily accessible information for clinicians, geneticists, and neuroscientists
Key Features
* Consistently formatted to present a clinical description of the disorder, followed by an in-depth analysis of the mutation and function of the mutated gene including cellular and animal models
* Emphasizes the use of DNA tests for each respective disorder
* Provides up-to-date, easily accessible information for clinicians, geneticists, and neuroscientists