Human Nucleotide Expansion Disorders

  • Michael Fry
  • Karen Usdin

Part of the Nucleic Acids and Molecular Biology book series (NUCLEIC, volume 19)

Table of contents

  1. Front Matter
    Pages I-XVII
  2. Molecular Bases of Nucleotide Expansions

    1. Front Matter
      Pages 1-1
    2. Richard R. Sinden, Malgorzata J. Pytlos, Vladimir N. Potaman
      Pages 3-53
  3. Disorders Associated with Non-coding Repeats

    1. Front Matter
      Pages 55-55
    2. Flora Tassone, Paul J. Hagerman
      Pages 57-85
    3. David L. Nelson, Yanghong Gu
      Pages 87-102
    4. Massimo Pandolfo
      Pages 103-119
    5. Maria D. Lalioti, Stylianos E. Antonarakis, Hamish S. Scott
      Pages 121-141
    6. Patana Teng-umnuay, Maurice S. Swanson
      Pages 143-166
    7. Katherine A. Dick, John W. Day, Laura P. W. Ranum
      Pages 167-183
    8. Xi Lin, Tetsuo Ashizawa
      Pages 185-195
  4. Disorders Associated with Coding Repeats

    1. Front Matter
      Pages 197-197
    2. Meyer J. Friedman, Shi-Hua Li, Xiao-Jiang Li
      Pages 199-231
    3. Marina Frontali
      Pages 233-250
  5. Disorders Associated with Repeats in an Undetermined Location

    1. Front Matter
      Pages 251-251
    2. Russell L. Margolis, Susan E. Holmes, Elizabeth O’Hearn, Dobrila D. Rudnicki, John Hwang, Natividad Cortez-Apreza et al.
      Pages 253-276
  6. Postscript

    1. Front Matter
      Pages 277-277
    2. Karen Usdin, Michael Fry
      Pages 279-287
  7. Back Matter
    Pages 289-293

About this book


Human neurological and neuromuscular disorders caused by nucleotide expansion, first discovered in 1991, are the focus of growing interest of practicing physicians and of interested biomedical researchers. This volume represents a comprehensive and up-to-date description of many of the better-studied disorders. The expert authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms. Of special interest are ideas and initial results of the different therapeutic strategies that can be employed to overcome some of the disorders. As a summary of the state-of-the-art research in this field, this book is of value to human geneticists, molecular biologists and biochemists as well as to practicing neurologists and pediatricians.


DNA DNA Instability Glutamin Nucleotide Polyglutamine RNA-mediated Pathology Repeat Expansion Diseases

Editors and affiliations

  • Michael Fry
    • 1
  • Karen Usdin
    • 2
  1. 1.Department of Biochemistry Rappaport Faculty of MedicineTechnion — Israel Institute of TechnologyHaifaIsrael
  2. 2.Gene Structure and Disease Section, Laboratory of Molecular & Cellular Biology, National Institute of Diabetes, Digestive and Kidney DiseasesNational Institutes of HealthBethesdaUSA

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 2006
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-540-33335-7
  • Online ISBN 978-3-540-33336-4
  • Series Print ISSN 0933-1891
  • Buy this book on publisher's site