کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3054367 1580048 2010 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly
چکیده انگلیسی

We describe a three generation family with recurrent strokes and cataracts. The index case, a 14 year old boy presented with stroke at the age of 14 years and again 6 months later. His mother had long standing episodic headaches diagnosed as migraine. Grandmother was initially diagnosed with multiple sclerosis and had recurrent strokes at age 18 years and 49 years. MRI scanning showed a diffuse leukoencephalopathy with microhaemorrhages in all three individuals. All of the family members had cataracts but did not have retinal arterial changes. Sequence analysis of COL4A1 revealed the heterozygous missense mutation c.2263G→A in exon 30, responsible for a glycine-to-arginine substitution (p.Gly755Arg) in both the index case and mother. Grandmother died at the age of 73 years and DNA analysis was not possible. Mutation in COL4A1 should be considered in families with a history of autosomal dominant cerebral vasculopathy, even in the absence of porencephaly.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Paediatric Neurology - Volume 14, Issue 2, March 2010, Pages 182–187
نویسندگان
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