Article

CCG•CGG interruptions in high penetrance SCA8 families increase RAN translation and protein toxicity

2021-02-10

Abstract excerpt

Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that carry the mutation do not develop ataxia. To understand the variable penetrance of SCA8 we studied the molecular differences between highly penetrant families and more common sporadic cases (82%) using a large cohort of SCA8 families (N=77). We show that re...

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Literature Corpus work: be7a9566-d901-5137-b102-bf59809034ad
DOI: 10.1101/2021.02.08.430311

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