کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6808561 1433591 2012 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
چکیده انگلیسی
We recently reported that mutations in the valosin-containing protein (VCP) gene are a cause of 1%-2% of familial amyotrophic lateral sclerosis (ALS) cases, but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of VCP in 701 sporadic ALS cases. Three pathogenic variants (p.Arg159Cys, p.Asn387Thr, and p.R662C) were found in three U.S. cases, each of whom presented with progressive upper and lower motor neuron signs consistent with definite ALS by El Escorial diagnostic criteria. Our data indicate that VCP mutations may underlie apparently sporadic ALS but account for <1% of this form of disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 33, Issue 9, September 2012, Pages 2231.e1-2231.e6
نویسندگان
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