Year: 2017
Type: article
Abstract: Spinocerebellar ataxia types 1 (SCA1, OMIM# 164400) and 8 (SCA8, OMIM# 608768) are autosomal dominant, inherited ataxias. SCA1 is caused by abnormal expansion of a CAG triplet repeat in the ATXN1 gene, while SCA8 results from CAG and complementary CUG expansions from a bidirectionally transcribed locus comprising the ATXN8OS and ATXN8 genes.1 In both cases, the expansions are thought to act as toxic gain-of-function mutations, although loss of normal protein function could also play a role. Although expansions in SCA1 have been clearly determined as pathogenic, those in SCA8 have been more difficult to study. Some investigators have suggested that very large expansions of repeats in SCA8 may not be pathogenic at all, since these might be unstable and in fact have been reported both in clinically affected and unaffected persons.2–6 To further complicate matters, pathogenic expansions in SCA1 along with SCA8 have been reported to coexist, just as for SCA1 and SCA6.7 Acknowledgment: The authors thank Elizabeth Hartnett for helping with patient scheduling.
Source: Neurology Genetics
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W2606231517