Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

@article{MatillaDueas2008ClinicalGM,
  title={Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1},
  author={Antoni Matilla-Due{\~n}as and Robert G. Goold and Paola Giunti},
  journal={The Cerebellum},
  year={2008},
  volume={7},
  pages={106-114}
}
Spinocerebellar ataxia type 1 (SCA1) is a late onset neurodegenerative disease characterized by cerebellar ataxia with variable degrees of ophthalmoplegia, pyramidal and extrapyramidal signs, and peripheral neuropathy. SCA1 is caused by the toxic effects triggered by an expanded polyglutamine (polyQ) within the protein ataxin 1 (Atxn1) resulting in variable degrees of neurodegeneration in the cerebellum, brainstem, and spinocerebellar tracts. The toxic gain-of-function mechanisms by which the… CONTINUE READING
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