کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8681685 1579650 2018 12 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Spastic paraparesis as the first manifestation of Machado-Joseph disease: A case report and review of the literature
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
پیش نمایش صفحه اول مقاله
Spastic paraparesis as the first manifestation of Machado-Joseph disease: A case report and review of the literature
چکیده انگلیسی
Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, is characterized by remarkable clinical heterogeneity. We present a MJD family in which variable phenotypes were noted in affected members, including one presenting predominantly with spastic paraparesis. A review of the literature revealed that MJD with the initial presentation of spastic paraparesis is more frequently observed in cases of eastern Asian origin who carry a greater CAG expansions in the ATXN3 gene. A greatly expanded allele in ATXN3 combined with an eastern Asian genetic background is associated with a phenotype of spastic paraparesis in MJD.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Neurology and Neurosurgery - Volume 172, September 2018, Pages 137-140
نویسندگان
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