Genetics of Movement Disorders
Published on 25. October 2002
561 pages
978-0-08-053241-7 (ISBN)
Description
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.
- 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
More details
Language
English
Place of publication
San Diego
United States
Product notice
Windows
Illustrations
Approx. 100 illustrations
ISBN-13
978-0-08-053241-7 (9780080532417)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
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Other editions
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Content
- Front Cover
- Genetics of Movement Disorders
- Copyright Page
- Contents
- Contributors
- Foreword
- Preface
- Chapter 1. Introduction to Medical Genetics and Methods of DNA Testing
- I. Concepts and Terminology
- II. Patterns of Inheritance
- III. Molecular Genetic Tools
- IV. Molecular Genetic Testing
- V. Animal Models
- VI. Web-Based Information for Genetic Diagnosis and Testing
- References
- Chapter 2. Inherited Ataxias: An Introduction
- I. Classification
- II. Recently Identified Ataxias
- III. Worldwide Prevalence
- IV. Mechanisms of Disease
- V. Genotype/Phenotype Correlations and Modifying Loci
- VI. Progression and Treatment
- References
- Chapter 3. Spinocerebellar Ataxia 1 (SCA1)
- I. Summary
- II. SCAl-The Phenotype
- III. The SCA1 Gene
- IV. Models of Disease
- V. Treatment
- References
- Chapter 4. Spinocerebellar Ataxia 2 (SCA2)
- I. Summary
- II. Phenotype
- III. Normal and Abnormal Gene Function
- IV. Diagnosis
- V. Neurophysiology
- VI. Neuroimaging
- VII. Neuropathology
- VIII. Animal Models
- IX. Genotype/Phenotype/Modifying Alleles
- X. Treatment
- References
- Chapter 5. Spinocerebellar Ataxia 3-Machado-joseph Disease (SCA3)
- I. Historical Introduction
- II. Prevalence of MJD
- III. Phenotype
- IV. Diagnosis
- V. Neuropathology
- VI. Molecular Genetics
- VII. Phenotype-Genotype Correlation
- VIII. Pathogenic Mechanisms and Models
- IX. Treatment
- References
- Chapter 6. Spinocerebellar Ataxia Type 4 (SCA4)
- I. Summary
- II. Phenotype
- III. Gene Locus
- IV. Diagnostic and Ancillary Tests
- V. Neuropathology
- VI. ADCCA or Pure Cerebellar Ataxia Linked to SCA4 Locus
- References
- Chapter 7. Spinocerebellar Ataxia 5 (SCA5)
- I. Introduction
- II. Anticipation
- III. Genetic and Physical Mapping
- IV. Repeat Expansion Detection and Rapid Cloning
- V. Clinical Features
- VI. Neuroimaging and Neuropathology
- VII. Conclusions
- References
- Chapter 8. Spinocerebellar Ataxia 6 (SCA6)
- I. Introduction
- II. Clinical Features
- III. Genetics
- IV. Diagnosis
- V Molecular Pathogenesis
- VI. Neuropathology
- VII. Animal Models
- VIII. Treatment
- References
- Chapter 9. Spinocerebellar Ataxia 7 (SCA7)
- I. Summary
- II. Phenotype
- III. Gene
- IV. Diagnostic and Ancillary Tests
- V Neuroimaging
- VI. Neuropathology
- VII. Cellular and Animal Models of Disease
- VIII. Genotype/Phenotype Correlations/Modifying Alleles
- IX. Treatment
- X. Conclusion
- References
- Chapter 10. Spinocerebellar Ataxia 8 (SCA8)
- I. Summary
- II. Phenotype
- III. Gene
- IV. Diagnostic and Ancillary Tests
- V. Cellular and Animal Models of Disease
- VI. Genotype/Phenotype Correlation and Modifying Alleles
- VII. Treatment
- References
- Chapter 11. Spinocerebellar Ataxia 10 (SCA10)
- I. Summary
- II. Phenotype
- III. The SCA 10 Gene
- IV. Instability of the Expanded ATTCT Repeat
- V. Diagnosis
- VI. Genotype-Phenotype Correlation
- VII. Population Genetics
- VIII. Models and Disease Mechanism of the ATTCT Expansion
- IX. Treatment
- References
- Chapter 12. Spinocerebellar Ataxia 11 (SCA11)
- I. Summary
- II. Phenotype
- III. Gene
- IV. Neuroimaging and Ancillary Tests
- References
- Chapter 13. Spinocerebellar Ataxia 12 (SCA12)
- I. Introduction
- II. Phenotype of SCA12
- III. Normal and Abnormal Gene Function
- IV. Diagnosis
- V. Treatment
- References
- Chapter 14. Spinocerebellar Ataxia 13, 14, and 16
- I. Summary
- II. Phenotype
- III. Gene
- IV. Diagnostic and Ancillary Tests
- V. Neuroimaging
- VI. Neuropathology
- VII. Cellular and Animal Models of Disease
- VIII. Genotype/Phenotype Correlation/Modifying Alleles
- IX. Treatment
- References
- Chapter 15. Spinocerebellar Ataxia 17 (SCA17)
- I. Summary
- II. Phenotype
- III. Gene
- IV. Diagnosis
- V. Neuropathology
- VI. Neuroimaging
- VII. Cellular and Animal Models of Disease
- VIII. Treatment
- References
- Chapter 16. Dentatorubral-Pallidoluysian Atrophy (DRPLA)
- I. Phenotype
- II. Molecular Genetics of DRPLA
- III. Diagnostic and Ancillary Tests
- IV. Cellular and Animal Models of Disease
- V. Treatment
- References
- Chapter 17. Ataxia in Prion Diseases
- I. The PRNP Gene and Protein Products
- II. Phenotypes
- III. Diagnostic and Ancillary Tests
- IV. Cellular and Animal Models of Disease
- V. Treatment and Management
- References
- Chapter 18. Friedreich Ataxia
- I. Summary
- II. Phenotype
- III. Gene
- IV. Diagnostic and Ancillary Tests
- V. Pathology
- VI. Cellular and Animal Models of Disease
- VII. Genotype/Phenotype Correlations/Modifying Alleles
- VIII. Treatment
- References
- Chapter 19. Familial Ataxia with Isolated Vitamin E Deficiency (AVED)
- I. Introduction
- II. Phenotype
- III. Gene
- IV. Diagnostic and Ancillary Tests
- V. Cellular and Animal Models of the Disease
- VI. Genotype/Phenotype Correlations-Modifying Alleles
- VII. Treatment
- References
- Chapter 20. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS/SACS)-No Longer a Local Disease
- I. Phenotype
- II. Gene
- III. Diagnostic and Ancillary Tests
- IV. Neuroimaging
- V. Neuropathology
- VI. Genotype/Phenotype Correlations
- References
- Chapter 21. Ataxia-Telangiectasia
- I. Phenotype
- II. ATM Gene and Function Based on Human Data
- III. Biochemical Targets of ATM Kinase Activity
- IV. Diagnosis
- V. Cellular and Animal Models of the Disease
- VI. Animal Models of A-T
- VII. Genotype/Phenotype Correlations
- VIII. Treatment
- IX. Syndromes Related to A-T
- References
- Chapter 22. Episodic and Intermittent Ataxias
- I. Clinical Features
- II. Genetics
- III. Diagnosis
- IV. In Vitro and In Vivo Models
- V. Treatment
- References
- Chapter 23. Multiple System Atrophy
- I. Introduction
- II. Clinical Features
- III. Diagnosis of MSA
- IV. Neuroimaging
- V. Pathology of MSA
- VI. Epidemiology and Environmental Risk Factors
- VII. Genetics
- VIII. Management and Treatment
- References
- Chapter 24. Metabolic and Mitochondrial Ataxias
- I. Ataxia in Mitochondrial Disorders
- II. Ataxia in Lipid Disorders
- III. Ataxia in Lysosomal Disorders
- IV Ataxias Associated with Other Metabolic Disorders
- References
- Chapter 25. Diagnostic Evaluation of Ataxic Patients
- I. Defining the Neurologic Phenotype in Patients with Ataxia as the Primary Symptom
- II. Determining whether the Disease is Genetic
- References
- Chapter 26. Parkinson's Disease: Genetic Epidemiology and Overview
- I. Introduction
- II. The Clinical and Pathological Features of Parkinson's Disease
- III. Diagnosis of Parkinson's Disease
- IV. The Treatment of Parkinson's Disease
- V. Challenges Investigating the Etiology of Parkinson's Disease
- VI. Studies of Familial Aggregation
- VII. Twin Studies
- VIII. Single Gene Associations
- IX. Conclusion
- References
- Chapter 27. PARK1 and a-Synuclein: A New Era in Parkinson's Research
- I. Introduction
- II. The Contursi Kindred
- III. The Clinical Phenotype of the A53T Mutation
- IV. Parkinsonism Due to a A30P Mutation
- V. Gene Function
- VI. Aggregation of a-Synuclein
- VII. Diagnosis
- VIII. Neuroimaging
- IX. Animal Models of a-Synucleinopathies
- X. Is the A53T Phenotype Parkinson's Disease?
- XI. Treatment
- XII. Conclusions
- References
- Chapter 28. Parkin Mutations (Park2)
- I. Introduction
- II. Gene
- III. Diagnostic and Ancillary Tests
- IV. Neuroimaging
- V. Neuropathology
- VI. Cellular and Animal Models
- VII. Genotype and Phenotype Correlations/Modifying Alleles
- VIII. Treatment
- References
- Chapter 29. PARK3, Ubiquitin Hydrolase-L1 and Other PD Loci
- I. PARK3
- II. PARK4
- III. PARK5
- IV. PARK6
- V. PARK7
- VI. PARK8 and PARK9
- VII. Other Linked PD Loci
- References
- Chapter 30. tau Genetics in Frontotemporal Lobe Dementia, Progressive Supranuclear Palsy, and Corticobasal Degeneration
- I. Introduction
- II. Anatomy of the tau Gene
- III. tau Genetics and Molecular Function
- IV Clinical Phenotypes Caused by tau Gene Mutations
- V. Clinical Genetics in FTD, PSP, and CBD
- VI. tau Genetics and Transgenic Models of Disease
- VII. Treatment
- References
- Chapter 31. Wilson Disease
- I. Introduction
- II. Phenotype
- III. Normal and Abnormal Gene Function
- IV Diagnosis
- V. Neuroimaging
- VI. Pathologic Anatomy
- VII. Animal Models
- VIII. Treatment
- References
- Chapter 32. Essential Tremor
- I. Phenotype
- II. Gene
- III. Diagnostic and Ancillary Tests
- IV Neuroimaging
- V. Neuropathology
- VI. Cellular and Animal Models of Disease
- VII. Genotype/Phenotype Correlations/Modifying Alleles
- VIII. Treatment
- References
- Chapter 33. Molecular Biology of Huntington's Disease (HD) and HD-Like Disorders
- I. Summary
- II. Symptomatology of HD
- III. Neuropathology
- IV. Neuroimaging
- V. Genetics of HD
- VI. Diagnostic and Predictive Testing
- VII. Gene, Normal Gene, and Abnormal Gene Function
- VIII. Huntingtin Aggregates
- IX. Cell Death in HD
- X. Early Changes in Gene Expression
- XI. Excitotoxicity and Impaired Energy Production
- XII. Animal Models
- XIII. Genotype/Phenotype/Modifying Alleles
- XIV. Treatment
- XV. HD-Like Disorders
- References
- Chapter 34. Paroxysmal Dyskinesias
- I. Historical Aspects and Classification
- II. Pathophysiology
- III. Future Directions
- IV. Concluding Summary
- References
- Chapter 35. Primary Dystonias
- I. Autosomal Dominant Dystonias
- II. Autosomal Recessive Dystonias
- III. X-Linked Recessive Dystonias
- IV. Animal Models of Dystonia
- References
- Chapter 36. DYT1 Dystonia
- I. Summary
- II. Phenotype
- III. Gene
- IV. Diagnostic and Ancillary Tests
- V. Neuroimaging
- VI. Neuropathology
- VII. Cellular and Animal Models of Disease
- VIII. Treatment
- References
- Chapter 37. Dopa-Responsive Dystonia
- I. Introduction
- II. Phenotype and Treatment
- III. Causative Gene
- IV. Diagnosis
- V. Genotype/Phenotype Correlation
- VI. Mechanism of Dominant Inheritance
- VII. The Mechanism of Neuronal Selectivity-A Study with an Animal Model of Biopterin Deficiency
- References
- Chapter 38. Hallervorden-Spatz Syndrom
- I. Introduction
- II. Phenotype
- III. Gene
- IV. Diagnostic and Ancillary Tests
- V. Cellular and Animal Models of Disease
- VI. Genotype/Phenotype Correlations/Modifying Alleles
- VII. Treatment
- References
- Chapter 39. Genetics of Familial Idiopathic Basal Ganglia Calcification (FIBGC)
- I. Clinical Phenotype
- II. Genetics
- III. Diagnostic and Ancillary Tests
- IV. Neuroimaging
- V. Neuropathology
- VI. Pathogenesis and Models of Disease
- VII. Genotype-Phenotype Correlations
- VIII. Treatment
- References
- Chapter 40. Myoclonus and Myodonus-Dystonias
- I. Summary
- II. Phenotype
- III. Gene(s)
- IV. Diagnostic and Ancillary Tests
- V. Neuroimaging
- VI. Neuropathology
- VII. Cellular and Animal Models of Disease
- VIII. Genotype/Phenotype Correlations
- IX. Treatment
- References
- Chapter 41. Mitochondrial Mutations in Parkinson's Disease and Dystonias
- I. Mitochondrial Genetics
- II. Parkinson's Disease
- III. Dystonia
- IV. Treatment Implications
- V. Conclusions
- References
- Chapter 42. Genetics of Gilles de la Tourette Syndrome
- I. The GTS Phenotype
- II. GTS is Heritable
- III. Segregation Analyses of GTS Family Data
- IV. The Search for Genes in GTS
- V. Cytogenetic and Molecular Cytogenetic Approaches
- VI. Neuroimaging
- VII. Treatment
- VIII. Summary and Future Prospects
- References
- Chapter 43. The Genetics of Restless Legs Syndrome
- I. Introduction
- II. Clinical Features
- III. Prevalence and Progression
- IV. Genetic Studies
- V. Diagnosis
- VI. Neuroimaging and Neurophysiological Studies
- VII. Treatment
- VIII. Summary
- References
- Chapter 44. Other Adult-Onset Movement Disorders with a Genetic Basis
- I. Inborn Errors of Metabolism
- II. Disorders of Heavy Metal Metabolism
- III. Movement Disorders Associated with Hematological Disease
- IV. Other Rare Disorders
- V Summary
- References
- Chapter 45. Ethical Issues in Genetic Testing for Movement Disorders
- I. Introduction
- II. Understanding the Role of Molecular Diagnostics in the Management of Neurological Disorders
- III. Ethical Principles
- IV. Conclusions
- References
- Index
