Abstract
This article describes ataxin-1, the protein mutated in the autosomal dominant cerebellar disorder, spinocerebellar ataxia type 1 (SCA1). The specific mutation in SCA1 is a CAG trinucleotide repeat expansion within the coding region of the gene. Thus, SCA1 belongs to the growing family of polyglutamine diseases, all of which affect the nervous system.
| Original language | English (US) |
|---|---|
| Title of host publication | Encyclopedia of Movement Disorders |
| Publisher | Elsevier Inc |
| Pages | 94-95 |
| Number of pages | 2 |
| ISBN (Electronic) | 9780123741059 |
| ISBN (Print) | 9780123741011 |
| DOIs | |
| State | Published - Jan 1 2010 |
Keywords
- Ataxia
- Ataxin
- CAG repeats
- Cerebellum
- Genetics
- Mouse-models
- Neurodegeneration
- Polyglutamine disorders
- Purkinje cell
- Spinocerebellar ataxia (SCA)
ASJC Scopus subject areas
- Medicine(all)
- Neuroscience(all)