Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Thomas RouxMathieu BarbierMélanie PapinClaire-Sophie DavoineSabrina SayahGiulia CoarelliPerrine CharlesCecilia MarelliLivia ParodiChristine TranchantCyril GoizetStephan KlebeEbba LohmannLionel Van MaldergemChristine van BroeckhovenMarie CoutelierChristelle TessonGiovanni StevaninCharles DuyckaertsAlexis BriceAlexandra Dürrnull null

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Our results reveal an unexpectedly frequent (7%) implication of STUB1 among dominantly inherited cerebellar ataxias, and suggest that the penetrance of STUB1 variants could be modulated by other factors, including sex and variants in other ataxia-related genes.

Keyphrases

copy number
cognitive impairment
genome wide
early onset
dna methylation