The SCA12 Mutation as a Rare Cause of Spinocerebellar Ataxia
Open Access
- 1 November 2001
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 58 (11) , 1833-1835
- https://doi.org/10.1001/archneur.58.11.1833
Abstract
THE SPINOCEREBELLAR ataxias (SCAs) are a heterogeneous group of inherited neurodegenerative disorders that primarily affect the cerebellum, brainstem, and spinal tracts.1 At least 13 genetic loci and 7 different SCA genes have been identified. SCA1, SCA2, SCA3/MJD, SCA6, and SCA7 are caused by expansions of CAG nucleotide repeats in coding regions of the corresponding genes.2 However, the genetic defect underlying a significant subset of SCAs remains to be elucidated.Keywords
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