Article
Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view
2018-11-12
Abstract excerpt
Abstract Spinocerebellar ataxias (SCAs) are rare types of cerebellar ataxia with a dominant mode of inheritance. To date, 47 SCA subtypes have been identified, and the number of genes implicated in SCAs is continually increasing. Polyglutamine (polyQ) expansion diseases ( ATXN1 /SCA1, ATXN2 /SCA2, ATXN3 /SCA3, CACNA1A /SCA6, ATXN7 /SCA7, TBP /SCA17, and ATN1 /DRPLA) are the most common group of SCAs. No preventive...
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Identifiers and source
- Literature Corpus work
- 5196d734-088c-5d87-bbf3-92951c4cf7f1
- DOI
- 10.12688/f1000research.15788.1