与 SACS 基因突变相关的进行性肌阵挛性癫痫。
Progressive myoclonus epilepsy associated with SACS gene mutations.
机构信息
Division 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.
出版信息
Neurol Genet. 2016 Jun 23;2(4):e83. doi: 10.1212/NXG.0000000000000083. eCollection 2016 Aug.
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.
SACS 基因（OMIM #604490）中的致病性变异导致常染色体隐性痉挛性共济失调-沙格奈（ARSACS）。ARSACS 是一种神经退行性疾病，为早发性进行性疾病，最初在法裔加拿大人中描述，但后来在其他地方也有观察到。(1)对一大群未分类的进行性肌阵挛性癫痫（PME）患者进行全外显子组测序，发现 2 名患者携带 SACS 基因突变。(2)我们详细描述了与 SACS 突变相关的 PME 临床特征，并建议将 SACS 基因纳入 PME 的诊断筛查。
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