8. Huntington's Disease and Polyglutamine Expansion Neurodegenerative Diseases

  1. Robert Crichton and
  2. Roberta Ward

Published Online: 6 SEP 2013

DOI: 10.1002/9781118553480.ch08

Metal-based Neurodegeneration: From Molecular Mechanisms to Therapeutic Strategies

Metal-based Neurodegeneration: From Molecular Mechanisms to Therapeutic Strategies

How to Cite

Crichton, R. and Ward, R. (eds) (2013) Huntington's Disease and Polyglutamine Expansion Neurodegenerative Diseases, in Metal-based Neurodegeneration: From Molecular Mechanisms to Therapeutic Strategies, John Wiley and Sons Ltd, Chichester, United Kingdom. doi: 10.1002/9781118553480.ch08

Editor Information

  1. Unit of Biochemistry, Université Catholique de Louvain, Belgium

Publication History

  1. Published Online: 6 SEP 2013
  2. Published Print: 25 OCT 2013

ISBN Information

Print ISBN: 9781119977148

Online ISBN: 9781118553480

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Keywords:

  • disease pathogenesis;
  • Huntington's disease (HD);
  • neurodegenerative diseases;
  • polyglutamines (poly-Q) protein aggregation;
  • protein aggregation;
  • spinocerebellar ataxias (SCA);
  • trinucleotide expansion disease

Summary

Trinucleotide expansions in unstable tandem repeats (TRs) located within or close to human genes account for at least 19 neurological disorders ranging from developmental childhood disorders like X-linked mental retardation syndromes to late-onset disorders like Huntington's disease (HD) and the inherited ataxias. They can be grouped into two sub-families depending on whether the expansion occurs in a coding or a non-coding region of the gene. This chapter considers the first class, which includes HD as well as a number of spinocerebellar ataxias (SCA). It addresses polyglutamines (poly-Q) protein aggregation and the mechanisms which may be involved in the pathogenesis of poly-Q disorders. SCA7 is usually a late-onset neurodegenerative disease associated with dominant transmission, and is clinically unique in that it is the only polyglutamine disorder in which the retina is affected.