© 2018

Polyglutamine Disorders

  • Clévio Nóbrega
  • Luís Pereira de Almeida
  • Provides a cutting-edge review of polyglutamine diseases

  • Includes chapters that explore each disorder in depth, as well as gene and cell therapies

  • Shows the involvement of leading global researchers in the field of polyglutamine disorders


Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1049)

Table of contents

  1. Front Matter
    Pages i-viii
  2. Rhia Ghosh, Sarah J. Tabrizi
    Pages 1-28
  3. J. Stricker-Shaver, A. Novati, L. Yu-Taeger, H. P. Nguyen
    Pages 29-57
  4. Catarina Carmo, Luana Naia, Carla Lopes, A. Cristina Rego
    Pages 59-83
  5. Andreas Neueder, Gillian P. Bates
    Pages 85-101
  6. Daniel R. Scoles, Stefan M. Pulst
    Pages 175-195
  7. Yasuko Toyoshima, Hitoshi Takahashi
    Pages 219-231
  8. Sandra Martins, Jorge Sequeiros
    Pages 243-254
  9. Nuno Mendonça, Marcondes C. França Jr., António Freire Gonçalves, Cristina Januário
    Pages 255-273
  10. Ana Luisa Carvalho, Alexandra Silva, Sandra Macedo-Ribeiro
    Pages 275-288
  11. Jana Schmidt, Thorsten Schmidt
    Pages 289-308
  12. Jonas Alex Morales Saute, Laura Bannach Jardim
    Pages 321-348
  13. Clévio Nóbrega, Ana Teresa Simões, Joana Duarte-Neves, Sónia Duarte, Ana Vasconcelos-Ferreira, Janete Cunha-Santos et al.
    Pages 349-367
  14. Sara Duarte-Silva, Patrícia Maciel
    Pages 369-394

About this book


This book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies’ development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression. 

Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington’s disease (HD); spinal–bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17).

The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.


Polyglutamine disorders gene therapy molecular mechanisms neurodegenerative disorders therapeutic strategies

Editors and affiliations

  • Clévio Nóbrega
    • 1
  • Luís Pereira de Almeida
    • 2
  1. 1.Department of Biomedical Sciences and Medicine; Centre for Biomedical Research and Algarve Biomedical CenterUniversity of AlgarveFaroPortugal
  2. 2.Center for Neuroscience and Cell Biology and Faculty of PharmacyUniversity of CoimbraCoimbraPortugal

About the editors

Clevio Nobrega Ph.D. and Luis Pereira de Almeida Ph.D.
University of Coimbra, Center for Neurosciences and Cell Biology, FMUC, Coimbra, Portugal

Bibliographic information

  • Book Title Polyglutamine Disorders
  • Editors Clévio Nóbrega
    Luís Pereira de Almeida
  • Series Title Advances in Experimental Medicine and Biology
  • Series Abbreviated Title Adv Exp Med Biol
  • DOI
  • Copyright Information Springer International Publishing AG 2018
  • Publisher Name Springer, Cham
  • eBook Packages Biomedical and Life Sciences Biomedical and Life Sciences (R0)
  • Hardcover ISBN 978-3-319-71778-4
  • Softcover ISBN 978-3-319-89103-3
  • eBook ISBN 978-3-319-71779-1
  • Series ISSN 0065-2598
  • Series E-ISSN 2214-8019
  • Edition Number 1
  • Number of Pages VIII, 469
  • Number of Illustrations 2 b/w illustrations, 39 illustrations in colour
  • Topics Neurosciences
    Gene Function
  • Buy this book on publisher's site
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