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Triple Repeat Diseases of the Nervous Systems

  • Book
  • © 2002

Overview

Editors:
  1. Lubov T. Timchenko

    1. Department of Medicine, Baylor College of Medicine, Houston, USA

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Part of the book series: Advances in Experimental Medicine and Biology (AEMB, volume 516)

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Table of contents (5 chapters)

  1. Front Matter

    Pages i-x
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  2. Molecular Mechanisms of TRS Instability

    • Pawel Parniewski, Pawel Staczek
    Pages 1-25

  3. Myotonic Dystrophy: Discussion of Molecular Basis

    • Lubov T. Timchenko, Steve J. Tapscott, Thomas A. Cooper, Darren G. Monckton
    Pages 27-45

  4. Spinocerebellar Ataxias Caused by Polyglutamine Expansions

    • Giovanni Stevanin, Alexandra Dürr, Alexis Brice
    Pages 47-77

  5. Spinocerebellar Ataxia Type 10: A Disease Caused by a Large ATTCT Repeat Expansion

    • Tohru Matsuura, Tetsuo Ashizawa
    Pages 79-97

  6. The Molecular Basis of Friedreich Ataxia

    • Massimo Pandolfo
    Pages 99-118

  7. Back Matter

    Pages 119-121
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Keywords

About this book

World of Unstable Mutations The book "Triplet Repeat Diseases of the Nervous System" overviews the lat­ est data on several disorders associated with unstable mutations. This field of re­ search is progressing extremely fast. The number of polymorphic mutations and diseases caused by these mutations is increasing almost every month. There is a strong interest to molecular bases of triplet repeat disorders. This is explained by growing necessity to develop molecular approaches for cure of these diseases. There­ fore, the authors of this book describe unstable mutations with the emphasis on molecular pathology. Broad discussion is presented on how polymorphic expan­ sions cause cell dysfunction. o The first chapter of the book focuses on the molecular pathological pro­ cesses that originate "unstable" mutations. The authors review several avail­ able models by which normal "stable" region of DNA become pathogenic and discuss possible mechanisms causing DNA instability. o The other chapters of the book describe inherited diseases associated with different types of unstable mutations. Based on the location of mutation in the disease gene, polymorphic expansions of the nervous system can be divided into two major groups. First group includes disorders with unstable expansions within the open reading frame of the gene such as Spinocer­ ebellar Ataxias caused by polyglutamine expansions. The second group in­ cludes diseases caused by expansions situated within the untranslated re­ gions of the gene.

Editors and Affiliations

  • Department of Medicine, Baylor College of Medicine, Houston, USA

    Lubov T. Timchenko

Bibliographic Information

  • Book Title: Triple Repeat Diseases of the Nervous Systems

  • Editors: Lubov T. Timchenko

  • Series Title: Advances in Experimental Medicine and Biology

  • DOI: https://doi.org/10.1007/978-1-4615-0117-6

  • Publisher: Springer New York, NY

  • eBook Packages: Springer Book Archive

  • Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature 2002

  • Hardcover ISBN: 978-0-306-47417-0Published: 31 January 2003

  • Softcover ISBN: 978-1-4613-4931-0Published: 17 September 2012

  • eBook ISBN: 978-1-4615-0117-6Published: 06 December 2012

  • Series ISSN: 0065-2598

  • Series E-ISSN: 2214-8019

  • Edition Number: 1

  • Number of Pages: X, 121

  • Topics: Human Genetics, Tree Biology, Crystallography and Scattering Methods

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