Nascimento FA, Canafoglia L, Aljaafari D, Muona M, Lehesjoki AE, Berkovic SF, Franceschetti S, and Andrade DM
Neurology. Genetics [Neurol Genet] 2016 Jun 23; Vol. 2 (4), pp. e83. Date of Electronic Publication: 20160623 (Print Publication: 2016).
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.