کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
9429607 1297052 2005 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Spinocerebellar ataxia type 2 (SCA2) with white matter involvement
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب (عمومی)
پیش نمایش صفحه اول مقاله
Spinocerebellar ataxia type 2 (SCA2) with white matter involvement
چکیده انگلیسی
Two sisters presented with olivopontocerebellar atrophy, neuronal loss in the substantia nigra, intranuclear ubiquitin-, ataxin-2-positive inclusions in neurons, and severe demyelination and axon loss of the cerebral white matter with no accompanying inflammatory pathology. The genetic study demonstrated a 22/36 CAG triplet expansion in the SCA2 gene in one of the sisters; SCA1, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17 and DRPL were ruled out in this patient. The present report shows that severe cerebral white matter pathology may occur in the context of SCA2.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience Letters - Volume 381, Issue 3, 24 June 2005, Pages 247-251
نویسندگان
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