Progressive myoclonus epilepsy associated with SACS gene mutations.

ABSTRACT: Pathogenic variants in the SACS gene (OMIM #604490) cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ARSACS is a neurodegenerative early-onset progressive disorder, originally described in French Canadians, but later observed elsewhere.(1) Whole-exome sequencing of a large group of patients with unclassified progressive myoclonus epilepsies (PMEs) identified 2 patients bearing SACS gene mutations.(2) We detail the PME clinical features associated with SACS mutations and suggest the inclusion of the SACS gene in diagnostic screening of PMEs.

SUBMITTER: Nascimento FA 

PROVIDER: S-EPMC4936476 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature