Polyglutamine Disorders

  • Clévio Nóbrega
  • Luís Pereira de Almeida

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
  15. Carlos A. Matos, Vítor Carmona, Udaya-Geetha Vijayakumar, Sara Lopes, Patrícia Albuquerque, Mariana Conceição et al.
    Pages 395-438
  16. Liliana S. Mendonça, Isabel Onofre, Catarina Oliveira Miranda, Rita Perfeito, Clévio Nóbrega, Luís Pereira de Almeida
    Pages 439-466
  17. Back Matter
    Pages 467-469

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

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