Article
Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.
Cerebellum (London, England) - 1 Jan 2008
Matilla-Dueñas Antoni, Goold Robert, Giunti Paola
Abstract excerpt
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,...
Topics
- Age of Onset
- Aged
- Ataxin-1
- Ataxins
- Child
- Cognition Disorders
- Humans
- Models, Molecular
- Mutation
- Nerve Tissue Proteins
- Nuclear Proteins
- Polyglutamic Acid