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Progressive myoclonus epilepsy associated with SACS gene mutations
Fábio A Nascimento1, Laura Canafoglia1, Danah Aljaafari1
1Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.
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.
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