Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students.
- Contributions by most of the principal research teams in the area, edited by world-renowned leaders
- Lays the background for future investigations on related diseases
Neurologists, neuroscientists, biochemists, geneticists, biophysicists, cell biologists, molecular biologists, human geneticists, pathologists, cancer researchers, tumor biologists, researchers developing standards for disease analysis, and patient advocacy groups.
Contributors Preface Part I Overview Chapter 1 Overview of the Field Part II Myotonic Dystrophy Chapter 2 Myotonic Dystrophies: An Overview Chapter 3 The RNA-Mediated Disease Process in Myotonic Dystrophy Chapter 4 cis Effects of CTG Expansion in Myotonic Dystrophy Type 1 Chapter 5 Normal and Pathophysiological Significance of Myotonic Dystrophy Protein Kinase Chapter 6 Biochemistry of Myotonic Dystrophy Protein Kinase Chapter 7 Clinical and Genetic Features of Myotonic Dystrophy Type 2 Chapter 8 Myotonic Dystrophy Type 2: Clinical and Genetic Aspects Chapter 9 The Subtelomeric D4Z4 Repeat Instability in Facioscapulohumeral Muscular Dystrophy Part III Fragile X Syndrome Chapter 10 Fragile X Syndrome and Fragile X-Associated Tremor/Ataxia Syndrome Chapter 11 Animal Models of Fragile X Syndrome: Mice and Flies Chapter 12 Chromosomal Fragile Sites: Mechanisms of Cytogenetic Expression and Pathogenic Consequences Part IV Kennedy's Disease Chapter 13 Clinical Features and Molecular Biology of Kennedy's Disease Part V Huntington's Disease Chapter 14 Molecular Pathogenesis and Therapeutic Targets in Huntington's Disease Chapter 15 Molecular Pathogenesis of Huntington's Disease: The Role of Excitotoxicity Chapter 16 Huntington's Disease-like 2 Part VI Friedreich's Ataxia Chapter 17 Friedreich's Ataxia Chapter 18 Experimental Therapeutics for Friedreich's Ataxia Chapter 19 Evolution and Instability of the GAA Triplet-Repeat Sequence in Friedreich's Ataxia Chapter 20 Mouse Models for Friedreich's Ataxia Chapter 21 Triplexes, Sticky DNA, and the (GAA•TTC) Trinucleotide Repeat Associated with Friedreich's Ataxia Part VII Spinocerebellar Ataxias Chapter 22 Phosphorylation of Ataxin-1: A Link between Basic Research and Clinical Application in Spinocerebellar Ataxia Type 1 Chapter 23 Spinocerebellar Ataxia Type 2 Chapter 24 Machad
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- © Academic Press 2006
- 11th July 2006
- Academic Press
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Praise for the First Edition: "...this presentation provides continued incentive to contribute to understanding the molecular foundation of each unique disease with the hope of insight and new strategies for treatment." - Alan P. Wolfe, Chief, Laboratory of Molecular Embryology, National Institutes of Health "... this is not a journey, it is an odyssey! ... the Wells and Warren book is outstanding. Here, the publishers deserve a pat on the back for the layout, figures (some of which are in colour) and print quality. I simply cannot praise this book enough. My copy will be jealously guarded!" - Jamal Nasir, Department of Molecular Medicine, Western General Hospital, Edinburgh UK