Genetic Instabilities and Neurological Diseases, Second Edition book cover

Genetic Instabilities and Neurological Diseases, Second Edition

This book describes everything about 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 excellent updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This edition also features a CD-ROM containing all of the figures from the book. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students.

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.


Published: July 2006

Imprint: Academic Press

ISBN: 978-0-12-369462-1


  • 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


  • Contributors


    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 Machado-Joseph Disease/Spinocerebellar Ataxia Type 3

    Chapter 25 Spinocerebellar Ataxia Type 6

    Chapter 26 Pathogenesis of Spinocerebellar Ataxia Type 7: New Insights from Mouse Models and Ataxin-7 Function

    Chapter 27 Spinocerebellar Ataxia Type 7: Clinical Features to Cellular Pathogenesis

    Chapter 28 Molecular Genetics of Spinocerebellar Ataxia Type 8

    Chapter 29 Spinocerebellar Ataxia Type 10: A Disease Caused by an Expanded (ATTCT)n Pentanucleotide Repeat

    Chapter 30 DNA Structures and Genetic Instabilities Associated with Spinocerebellar Ataxia Type 10 (ATTCT)n • (AGAAT)nRepeats Suggest a DNA Amplification Model for Repeat Expansion

    Chapter 31 Spinocerebellar Ataxia Type 12

    Chapter 32 Spinocerebellar Ataxia 17 and Huntington's Disease-like 4

    Part VIII Other Polyamino Acid Repeats

    Chapter 33 Polyalanine and Polyglutamine Diseases: Possible Common Mechanisms?

    Part IX Biophysics of PolyQ

    Chapter 34 Chemical and Physical Properties of Polyglutamine Repeat Sequences

    Part X In Vivo Instability Studies

    Chapter 35 Somatic Mosaicism of Expanded CAG•CTG Repeats in Humans and Mice: Dynamics, Mechanisms, and Consequences

    Chapter 36 Transgenic Mouse Models of Unstable Trinucleotide Repeats: Toward an Understanding of Disease-Associated Repeat Size Mutation

    Part XI Insect Models

    Chapter 37 Drosophila Models of Polyglutamine Disorders

    Part XII Instability Mechanisms In Vivo and In Vitro

    Chapter 38 Involvement of Genetic Recombination in Microsatellite Instability

    Chapter 39 Bending the Rules: Unusual Nucleic Acid Structures and Disease Pathology in the Repeat Expansion Diseases

    Chapter 40 Replication of Expandable DNA Repeats

    Chapter 41 Error-Prone Repair of Slipped (CTG)•(CAG) Repeats and Disease-Associated Expansions

    Chapter 42 DNA Repair Models for Understanding Triplet Repeat Instability

    Chapter 43 Models of Repair Underlying Trinucleotide DNA Expansion

    Chapter 44 Transcription and Triplet Repeat Instability

    Chapter 45 Structural Characteristics of Trinucleotide Repeats in Transcripts

    Part XIII Mutations in Flanking Sequences

    Chapter 46 Gross Rearrangements Caused by Long Triplet and Other Repeat Sequences

    Part XIV Cancer and Genetic Instability

    Chapter 47 Microsatellite Instability in Cancer



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