Article
The first Indian-origin family with genetically proven cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Jan 2013
Yadav Sunaina, Bentley Paul, Srivastava Padma, Prasad Kameshwar, Sharma Pankaj
Abstract excerpt
We report the first family of Indian origin known to be affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Seventeen members of the family spanning 3 generations had neurologic syndromes compatible with CADASIL, of whom 5 were genetically confirmed carriers of the Notch3 gene R141C mutation in exon 4 (421(C→T) and 141(Cys→Arg)). Our report highlights...
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