Polyglutamine spinocerebellar ataxias - from genes to potential treatments

Nat Rev Neurosci. 2017 Oct;18(10):613-626. doi: 10.1038/nrn.2017.92. Epub 2017 Aug 17.


The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and SCA7) are caused by expansion of a glutamine-encoding CAG repeat in the affected gene. These SCAs represent a substantial portion of the polyglutamine neurodegenerative disorders and provide insight into this class of diseases as a whole. Recent years have seen considerable progress in deciphering the clinical, pathological, physiological and molecular aspects of the polyglutamine SCAs, with these advances establishing a solid base from which to pursue potential therapeutic approaches.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / physiopathology
  • Disease Models, Animal
  • Humans
  • Models, Genetic
  • Models, Neurological
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Peptides / genetics*
  • Peptides / physiology
  • Spinocerebellar Ataxias* / diagnosis
  • Spinocerebellar Ataxias* / genetics
  • Spinocerebellar Ataxias* / physiopathology


  • Nerve Tissue Proteins
  • Peptides
  • polyglutamine