کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6806168 1433568 2014 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case
چکیده انگلیسی
Mutations in C9ORF72, SOD1, TARDBP, and FUS genes account for approximately two-third of familial cases and 5% of sporadic amyotrophic lateral sclerosis (ALS) cases. We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the FUS gene (c.1483c>t; p.R495X) with an apparently familial ALS. This mutation causes a phenotype characterized by a young age at onset, a rapid course (<24 months), and a bulbar onset with early respiratory involvement with a predominant lower motor neuron disease. De novo mutations could account for a sizable number of apparently sporadic ALS patients carrying mutations of ALS-related genes.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 35, Issue 6, June 2014, Pages 1513.e7-1513.e11
نویسندگان
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