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Genetic Instabilities and Neurological Diseases - 2nd Edition - ISBN: 9780123694621, 9780080463773

Genetic Instabilities and Neurological Diseases

2nd Edition

Editors: Robert D. Wells Tetsuo Ashizawa
eBook ISBN: 9780080463773
Hardcover ISBN: 9780123694621
Imprint: Academic Press
Published Date: 11th July 2006
Page Count: 784
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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.

Key Features

  • 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.

Table of Contents



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



No. of pages:
© Academic Press 2006
11th July 2006
Academic Press
eBook ISBN:
Hardcover ISBN:

About the Editors

Robert D. Wells

Affiliations and Expertise

Texas A&M University, Houston, U.S.A.

Tetsuo Ashizawa


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

Ratings and Reviews