کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3080786 1189353 2009 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
چکیده انگلیسی
Hereditary spastic paraplegias (HSPs) are relatively frequent disorders presenting great genetic heterogeneity. The recent identification of mutations in SPG5/CYP7B1 in six autosomal recessive kindred linked to the SPG5 locus on chromosome 8q prompted us to test the relative frequency of SPG5/CYP7B1 variants in 12 families and in sporadic HSP patients by high-resolution melting screening combined with direct sequencing. We present two patients who harbored three mutations (including two novel variants) in SPG5/CYP7B1 and white matter involvement evidenced at brain MRI. In HSP patients in whom no other genes were mutated, screening of SPG5/CYP7B1 seems to have a low diagnostic yield in autosomal recessive (8%) and sporadic (<1%) cases, even in those with complicated clinical features.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 19, Issue 1, January 2009, Pages 62-65
نویسندگان
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