کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1916444 1535208 2007 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A Japanese family with early-onset ataxia with motor and sensory neuropathy
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
A Japanese family with early-onset ataxia with motor and sensory neuropathy
چکیده انگلیسی

We report the case of a Japanese family with hereditary ataxia with peripheral neuropathy. Three affected siblings from this family exhibited very similar clinical features: teenage-onset, slowly progressive ataxia, followed by distal weakness, which developed after the age of 30 years. Magnetic resonance imaging studies showed marked atrophy in the cerebellar hemisphere and vermis, and a sural nerve biopsy revealed a marked reduction in the number of both myelinated and unmyelinated fibers. All patients exhibited hyperglutamatemia, but serum levels of albumin and lipid were normal. The clinicopathological and biochemical features of these cases suggest that they form a distinct entity of autosomal recessive hereditary ataxia with peripheral neuropathy.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 254, Issues 1–2, 15 March 2007, Pages 44–48
نویسندگان
, , , , ,