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spinocerebellar ataxia type 1

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Spinocerebellar ataxia type 1 is an autosomal dominant neurodegenerative disease which is characterised by:

  • ataxia
  • ophthalmoplegia
  • variable degrees of motor weakness

The onset of symptoms occurs in the third or fourth decades. The prognosis is bleak, with a gradual progression to disability and death within 10-20 years.

Ref: Orr, H.T. et al. (1993). Expansion of an unstable CAG trinucleotide repeat in spinocerebellar ataxia type I. Nature Genet. 4, 221-26.

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