کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1915973 1535198 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Novel SACS mutation in a Belgian family with sacsin-related ataxia
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Novel SACS mutation in a Belgian family with sacsin-related ataxia
چکیده انگلیسی
The authors describe the four patients in the first known Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation, NM_014363.3: c.3491T > A in exon 9, of the SACS gene was identified in the present family, which results in an original amino acid of methionine to lysine substitution at amino acid residue 1164 (p.M1164K). Although the cardinal clinical features, i.e., spastic ataxia with peripheral neuropathy, in our patients were similar to those in Quebec patients, our patients exhibited some atypical clinical features, e.g., teenage-onset and absence of retinal hypermyelination. The present family is from Wallonia, and there could be shared ethnicity with the families of Charlevoix-Saguenay.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 264, Issues 1–2, 15 January 2008, Pages 73-76
نویسندگان
, , , , , , , , , ,