Degenerative ataxias, from genes to therapies: The 2015 Cotzias Lecture.

  title={Degenerative ataxias, from genes to therapies: The 2015 Cotzias Lecture.},
  author={Stefan Matthias Pulst},
  volume={86 24},
OBJECTIVE To review progress in spinocerebellar ataxias (SCAs) and novel approaches to treatment. RESULTS AND CONCLUSIONS Autosomal dominant ataxias are now referred to as SCAs, with polyglutamine expansion mutations constituting the most common cause of SCAs. Phenotypic variation in patients with SCA is remarkable even in patients with identical mutations. In patients with SCA2, cerebellar ataxia is typically associated with slowed saccadic eye movements. In addition to classic cerebellar… CONTINUE READING
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