Genetics of movement disorders
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Academic Press
2003
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| 245 | 1 | 0 | |a Genetics of movement disorders |c ed. by Stefan-M. Pulst |
| 264 | 1 | |a Amsterdam [u.a.] |b Academic Press |c 2003 | |
| 300 | |a XVII, 561 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
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| 650 | 4 | |a Dyskinesias |x genetics | |
| 650 | 4 | |a Genetics, Medical |x methods | |
| 650 | 4 | |a Movement Disorders |x genetics | |
| 650 | 4 | |a Movement disorders |x Genetic aspects | |
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Datensatz im Suchindex
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| adam_text | Con
Contributors xv
Foreword xix
Preface xxi
1. Introduction to Medical Genetics and
Methods of DNA Testing
STEFAN M. PULST
I. Concepts and Terminology 2
II. Patterns of Inheritance 2
III. Molecular Genetic Tools 11
IV. Molecular Genetic Testing 14
V. Animal Models 15
VI. Web Based Information for Genetic Diagnosis and
Testing 16
References 17
2. Inherited Ataxias: An Introduction
STEFAN M. PULST
I. Classification 19
II. Recently Identified Ataxias 22
III. Worldwide Prevalence 23
IV. Mechanisms of Disease 25
V. Genotype/Phenotype Correlations and Modifying
Loci 29
VI. Progression and Treatment 30
References 30
3. Spinocerebellar Ataxia 1 (SCA1)
HARRY T. ORR
I. Summary 35
II. SCA1—The Phenotype 35
itents
III. The SCA1 Gene 36
IV. Models of Disease 38
V. Treatment 41
References 41
4. Spinocerebellar Ataxia 2 (SCA2)
STEFAN M. PULST
I. Summary 45
II. Phenotype 45
III. Normal and Abnormal Gene Function 47
IV. Diagnosis 50
V. Neurophysiology 51
VI. Neuroimaging 51
VII. Neuropathology 51
VIII. Animal Models 51
IX. Genotype/Phenotype/Modifying Alleles 52
X. Treatment 53
References 53
5. Spinocerebellar Ataxia 3—
Machado Joseph Disease (SCA3)
HENRY PAULSON AND S. H. SUBRAMONY
I. Historical Introduction 57
II. Prevalence of MJD 58
III. Phenotype 58
IV. Diagnosis 60
V. Neuropathology 61
VI. Molecular Genetics 62
VII. Phenotype Genotype Correlation 62
VIII. Pathogenic Mechanisms and Models 63
IX. Treatment 65
References 65
vii
Viii Conte
6. Spinocerebellar Ataxia Type 4 (SCA4)
HIDEHIRO MIZUSAWA
I. Summary 71
II. Phenotype 71
III. Gene Locus 71
IV. Diagnostic and Ancillary Tests 72
V. Neuropathology 72
VI. ADCCA or Pure Cerebellar Ataxia Linked to
SCA4 Locus 72
References 73
7. Spinocerebellar Ataxia 5 (SCA5)
LAURA P. W. RANUM, KATHER1NE A. DICK, AND J. W. DAY
I. Introduction 75
II. Anticipation 77
III. Genetic and Physical Mapping 77
IV. Repeat Expansion Detection and Rapid
Cloning 78
V. Clinical Features 78
VI. Neuroimaging and Neuropathology 79
VII. Conclusions 79
References 80
8. Spinocerebellar Ataxia 6 (SCA6)
JOANNA C. JEN
I. Introduction 81
II. Clinical Features 81
III. Genetics 81
IV. Diagnosis 82
V. Molecular Pathogenesis 82
VI. Neuropathology 83
VII. Animal Models 83
VIII. Treatment 83
References 83
9. Spinocerebellar Ataxia 7 (SCA7)
ANNE SOPHIE LEBRE, GIOVANNI STEVANIN,
AND ALEXIS BRICE
I. Summary 85
II. Phenotype 85
III. Gene 86
IV. Diagnostic and Ancillary Tests 87
V. Neuroimaging 88
VI. Neuropathology 88
VII. Cellular and Animal Models of Disease 89
VIII. Genotype/Phenotype Correlations/Modifying
Alleles 90
;nts
IX. Treatment 91
X. Conclusion 91
References 92
10. Spinocerebellar Ataxia 8 (SCA8)
MICHAEL D. KOOB
I. Summary 95
II. Phenotype 95
III. Gene 96
IV. Diagnostic and Ancillary Tests 97
V. Cellular and Animal Models of Disease 98
VI. Genotype/Phenotype Correlation and
Modifying Alleles 98
VII. Treatment 101
References 101
11. Spinocerebellar Ataxia 10 (SCA10)
TOHRU MATSUURA AND TETSUO ASHIZAWA
I. Summary 103
II. Phenotype 103
ffl. The SCA10 Gene 104
IV. Instability of the Expanded ATTCT Repeat 108
V. Diagnosis 108
VI. Genotype Phenotype Correlation 110
VII. Population Genetics 111
VIE. Models and Disease Mechanism of the
ATTCT Expansion 111
IX. Treatment 113
References 113
12. Spinocerebellar Ataxia 11 (SCA11)
HEMA VAKHARIA, MIN KYU OH, AND STEFAN M. PULST
I. Summary 117
II. Phenotype 117
III. Gene 118
IV. Neuroimaging and Ancillary Tests 119
References 119
13. Spinocerebellar Ataxia 12 (SCA12)
SUSAN E. HOLMES, SHWETA CHOUDHRY, CHISTOPHER A. ROSS,
ELIZABETH O HEARN, ACHAL K. SRIVASTAVA,
RUSSELL L. MARGOLIS, SAMIR K. BRAHMACHARI,
AND SATISH JAIN
I. Introduction 121
II. Phenotype of SCA12 122
III. Normal and Abnormal Gene Function 123
IV. Diagnosis 128
c
V. Treatment 130
References 130
14. Spinocerebellar Ataxia 13, 14, and 16
HIROTO FUJ1GASAKI, ALEXANDRA DURR, GIOVANNI STEVANIN,
AND ALEXIS BRICE
I. Summary 133
n. Phenotype 134
in. Gene 134
IV. Diagnostic and Ancillary Tests 136
V. Neuroimaging 136
VI. Neuropathology 136
VII. Cellular and Animal Models of Disease 137
VIII. Genotype/Phenotype Correlation/Modifying
Alleles 137
IX. Treatment 137
References 137
15. Spinocerebellar Ataxia 17 (SCA17)
SHOJI TSUJI
I. Summary 139
II. Phenotype 139
in. Gene 140
IV. Diagnosis 140
V. Neuropathology 140
VI. Neuroimaging 140
VII. Cellular and Animal Models of Disease 140
Vm. Treatment 140
References 140
16. Dentatorubral Pallidoluysian Atrophy
(DRPLA)
SHOJI TSUJI
I. Phenotype 143
n. Molecular Genetics of DRPLA 144
in. Diagnostic and Ancillary Tests 145
IV. Cellular and Animal Models of Disease 146
V. Treatment 148
References 148
17. Ataxia in Prion Diseases
LEV G. GOLDFARB
I. The PRNP Gene and Protein Products 151
II. Phenotypes 153
HI. Diagnostic and Ancillary Tests 159
IV. Cellular and Animal Models of Disease 160
entente i/*
V. Treatment and Management 161
References 161
18. Friedreich Ataxia
MASSIMO PANDOLFO
I. Summary 165
II. Phenotype 165
III. Gene 169
IV. Diagnostic and Ancillary Tests 170
V. Pathology 173
VI. Cellular and Animal Models of Disease 174
VII. Genotype/Phenotype Correlations/Modifying
Alleles 174
VIII. Treatment 174
References 175
19. Familial Ataxia with Isolated
Vitamin E Deficiency (AVED)
FAYCAL HENTATI, RIM AMOURI, MONCEF FEKI,
SANA GABSI GHERAIRI, AND SAMIR BELAL
I. Introduction 179
II. Phenotype 180
III. Gene 181
IV. Diagnostic and Ancillary Tests 183
V. Cellular and Animal Models of the Disease 184
VI. Genotype/Phenotype Correlations—Modifying
Alleles 185
VII. Treatment 185
References 185
20. Autosomal Recessive Spastic Ataxia of
Charlevoix Saguenay (ARSACS/SACS)—No
Longer a Local Disease
ANDREA RICHTER
I. Phenotype 189
II. Gene 191
III. Diagnostic and Ancillary Tests 191
IV. Neuroimaging 192
V. Neuropathology 192
VI. Genotype/Phenotype Correlations 192
References 193
21. Ataxia Telangiectasia
KAI TREUNER AND CARROLEE BARLOW
I. Phenotype 195
II. ATM Gene and Function Based on Human Data
197
III. Biochemical Targets of ATM Kinase Activity 197
IV. Diagnosis 198
V. Cellular and Animal Models of the Disease 198
VI. Animal Models of A T 200
VII. Genotype/Phenotype Correlations 201
VIII. Treatment 202
IX. Syndromes Related to A T 202
References 202
22. Episodic and Intermittent Ataxias
JOANNA C. JEN AND ROBERT W. BALOH
I. Clinical Features 205
II. Genetics 207
HI. Diagnosis 208
IV. In Vitro and In Vivo Models 209
V. Treatment 210
References 211
23. Multiple System Atrophy
CLIFF SHULTS AND SID GILMAN
I. Introduction 213
II. Clinical Features 214
HI. Diagnosis of MSA 217
IV. Neuroimaging 220
V. Pathology of MSA 223
VI. Epidemiology and Environmental Risk Factors 224
VII. Genetics 225
VIII. Management and Treatment 226
References 226
24. Metabolic and Mitochondrial Ataxias
ENRICO BERTINI, CARLO DIONISI VICI, AND MASSIMO ZEVIANI
I. Ataxia in Mitochondrial Disorders 231
II. Ataxia in Lipid Disorders 237
III. Ataxia in Lysosomal Disorders 240
IV. Ataxias Associated with Other Metabolic
Disorders 244
References 248
25. Diagnostic Evaluation of Ataxic Patients
SUSAN L. PERLMAN
I. Defining the Neurologic Phenotype in Patients with
Ataxia as the Primary Symptom 254
II. Determining whether the Disease is Genetic 263
References 267
26. Parkinson s Disease: Genetic
Epidemiology and Overview
CONNIE MARRAS AND CAROLINE TANNER
I. Introduction 273
II. The Clinical and Pathological Features of
Parkinson s Disease 274
III. Diagnosis of Parkinson s Disease 274
IV. The Treatment of Parkinson s Disease 275
V. Challenges Investigating the Etiology of
Parkinson s Disease 275
VI. Studies of Familial Aggregation 276
VH. Twin Studies 280
VUI. Single Gene Associations 281
IX. Conclusion 283
References 283
27. PARK1 and oc Synudein: A New Era in
Parkinson s Research
J. WILLIAM LANGSTON, LAWRENCE I. GOLBE,
AND SEUNG JAE LEE
I. Introduction 287
II. The Contursi Kindred 288
III. The Clinical Phenotype of the A53T Mutation 289
IV. Parkinsonism Due to a A30P Mutation 291
V. Gene Function 292
VI. Aggregation of oc Synuclein 294
VII. Diagnosis 298
VIII. Neuroimaging 298
IX. Animal Models of a Synucleinopathies 298
X. Is the A53T Phenotype Parkinson s Disease? 299
XI. Treatment 300
Xn. Conclusions 300
References 300
28. Parkin Mutations (Park2)
YOSHIKUNI MIZUNO, SHIUCHI ASAKAWA, TOSHIAKI SUZUKI,
NOBUTAKA HATTORI, SHINSEI M1NOSH1MA, TOMOKI CHIBA,
HIROYO YOSHINO, NOBUYOSHI SHIMIZU, AND KEIJI TANAKA
I. Introduction 305
II. Gene 306
III. Diagnostic and Ancillary Tests 308
IV. Neuroimaging 311
V. Neuropathology 311
VI. Cellular and Animal Models 312
VII. Genotype and Phenotype Correlations/Modifying
Alleles 312
VIII. Treatment 312
References 312
29. PARK3, Ubiquitin Hydrolase Ll and Other
PD Loci
REJKO KRUGER AND OLAF RIESS
I. PARK3 315
II. PARK4 316
in. PARK5 317
IV. PARK6 317
V. PARK7 319
VI. PARK8 and PARK9 319
Vn. Other Linked PD Loci 319
References 321
30. tau Genetics in Frontotemporal Lobe
Dementia, Progressive Supranudear Palsy,
and Corticobasal Degeneration
JOSEPH J. HIGGINS
I. Introduction 325
II. Anatomy of the tau Gene 326
HI. tau Genetics and Molecular Function 329
IV. Clinical Phenotypes Caused by tau Gene Mutations
331
V. Clinical Genetics in FTD, PSP, and CBD 333
VI. tau Genetics and Transgenic Models of Disease
335
VII. Treatment 335
References 336
31. Wilson Disease
JOHN H. MENKES
I. Introduction 341
II. Phenotype 341
HI. Normal and Abnormal Gene Function 343
IV. Diagnosis 346
V. Neuroimaging 346
VI. Pathologic Anatomy 348
VII. Animal Models 348
VIII. Treatment 348
References 350
32. Essential Tremor
ELAN D. LOUIS AND RUTH OTTMAN
I. Phenotype 353
n. Gene 355
III. Diagnostic and Ancillary Tests 356
IV. Neuroimaging 356
V. Neuropathology 357
VI. Cellular and Animal Models of Disease 357
VII. Genotype/Phenotype Correlations/Modifying
Alleles 358
VIII. Treatment 358
References 360
33. Molecular Biology of Huntington s
Disease (HD) and HD Like Disorders
DAVID C. RUBINSZTEIN
I. Summary 365
II. Symptomatology of HD 366
III. Neuropathology 366
IV. Neuroimaging 366
V. Genetics of HD 367
VI. Diagnostic and Predictive Testing 368
VII. Gene, Normal Gene, and Abnormal Gene
Function 369
VIII. Huntingtin Aggregates 370
IX. Cell Death in HD 372
X. Early Changes in Gene Expression 374
XI. Excitotoxicity and Impaired Energy Production 374
XII. Animal Models 375
XIII. Genotype/Phenotype/Modifying Alleles 375
XIV Treatment 376
XV. HD Like Disorders 376
References 377
34. Paroxysmal Dyskinesias
KAILASH P. BHATIA
I. Historical Aspects and Classification 385
II. Pathophysiology 390
III. Future Directions 391
IV. Concluding Summary 391
References 392
35. Primary Dystonias
ULR1CH MULLER
I. Autosomal Dominant Dystonias 397
II. Autosomal Recessive Dystonias 400
III. X Linked Recessive Dystonias 400
IV. Animal Models of Dystonia 402
References 403
36. DYT1 Dystonia
LAURIE 1. OZELIUS AND SUSAN B. BRESSMAN
I. Summary 407
II. Phenotype 407
III. Gene 409
FV. Diagnostic and Ancillary Tests 413
V. Neuroimaging 413
VI. Neuropathology 413
VII. Cellular and Animal Models of Disease 414
VIII. Treatment 414
References 415
37. Dopa Responsive Dystonia
HIROSHI ICHINOSE, CHIHO SUMI ICHINOSE,
TOSHIHARU NAGATSU, AND TAKAHIDE NOMURA
I. Introduction 419
II. Phenotype and Treatment 420
m. Causative Gene 420
IV. Diagnosis 422
V. Genotype/Phenotype Correlation 423
VI. Mechanism of Dominant Inheritance 424
VII. The Mechanism of Neuronal Selectivity—
A Study with an Animal Model of Biopterin
Deficiency 424
References 426
38. Hallervorden Spatz Syndrom
SUSAN J. HAYFLICK
I. Introduction 429
II. Phenotype 429
III. Gene 433
IV. Diagnostic and Ancillary Tests 434
V. Cellular and Animal Models of Disease 437
VI. Genotype/Phenotype Correlations/Modifying
Alleles 437
VII. Treatment 438
References 439
39. Genetics of Familial Idiopathic Basal
Ganglia Calcification (F1BGC)
MARIA JESUS SOBRIDO AND DANIEL H. GESCHWIND
I. Clinical Phenotype 443
II. Genetics 444
III. Diagnostic and Ancillary Tests 444
IV. Neuroimaging 446
V Neuropathology 447
VI. Pathogenesis and Models of Disease 447
VII. Genotype Phenotype Correlations 448
VIII. Treatment 448
References 448
40. Myodonus and Myodonus Dystonias
CHRISTINE KLEIN
I. Summary 451
II. Phenotype 452
m. Gene(s) 460
IV. Diagnostic and Ancillary Tests 464
V. Neuroimaging 465
VI. Neuropathology 465
VII. Cellular and Animal Models of Disease 465
Vm. Genotype/Phenotype Correlations 465
IX. Treatment 469
References 470
41. Mitochondrial Mutations in Parkinson s
Disease and Dystonias
DAVID K. SIMON
I. Mitochondrial Genetics 474
II. Parkinson s Disease 474
IE. Dystonia 480
IV. Treatment Implications 482
V. Conclusions 483
References 483
42. Genetics of Gilles de la
Tourette Syndrome
DAVID L. PAULS, STEFAN M. PULST, AND MATTHEW W. STATE
I. The GTS Phenotype 491
n. GTS is Heritable 492
III. Segregation Analyses of GTS Family Data 493
IV. The Search for Genes in GTS 494
V. Cytogenetic and Molecular Cytogenetic Approaches
496
VI. Neuroimaging 497
VII. Treatment 497
VIII. Summary and Future Prospects 497
References 498
43. The Genetics of Restless Legs Syndrome
ANDY PEIFFER
I. Introduction 503
II. Clinical Features 503
III. Prevalence and Progression 504
IV. Genetic Studies 504
V. Diagnosis 506
VI. Neuroimaging and Neurophysiological Studies 507
VII. Treatment 507
VIII. Summary 508
References 508
44. Other Adult Onset Movement Disorders
with a Genetic Basis
JAMES P. SUTTON
I. Inborn Errors of Metabolism 511
II. Disorders of Heavy Metal Metabolism 518
III. Movement Disorders Associated with Hematological
Disease 520
IV. Other Rare Disorders 531
V. Summary 533
References 533
45. Ethical Issues in Genetic Testing for
Movement Disorders
MARTHA A. NANCE, THOMAS D. BIRD, AND STEFAN M. PULST
I. Introduction 541
II. Understanding the Role of Molecular Diagnostics in
the Management of Neurological Disorders 542
HI. Ethical Principles 545
IV. Conclusions 549
References 549
Index 551
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| publisher | Academic Press |
| record_format | marc |
| spellingShingle | Genetics of movement disorders Dyskinesias genetics Genetics, Medical methods Movement Disorders genetics Movement disorders Genetic aspects Genetik (DE-588)4071711-2 gnd Bewegungsstörung (DE-588)4069422-7 gnd |
| subject_GND | (DE-588)4071711-2 (DE-588)4069422-7 |
| title | Genetics of movement disorders |
| title_auth | Genetics of movement disorders |
| title_exact_search | Genetics of movement disorders |
| title_full | Genetics of movement disorders ed. by Stefan-M. Pulst |
| title_fullStr | Genetics of movement disorders ed. by Stefan-M. Pulst |
| title_full_unstemmed | Genetics of movement disorders ed. by Stefan-M. Pulst |
| title_short | Genetics of movement disorders |
| title_sort | genetics of movement disorders |
| topic | Dyskinesias genetics Genetics, Medical methods Movement Disorders genetics Movement disorders Genetic aspects Genetik (DE-588)4071711-2 gnd Bewegungsstörung (DE-588)4069422-7 gnd |
| topic_facet | Dyskinesias genetics Genetics, Medical methods Movement Disorders genetics Movement disorders Genetic aspects Genetik Bewegungsstörung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010149193&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT pulststefanmatthias geneticsofmovementdisorders |