Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2702000 | Journal of Stroke and Cerebrovascular Diseases | 2013 | 4 Pages |
Abstract
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 (421C→T and 141Cys→Arg). Our report highlights that CADASIL not only occurs sporadically in South Asians, but also may account for stroke in South Asians with a strong family history. Furthermore, the similarity of clinical presentations described here to those typical for Caucasian case series suggests that the CADASIL phenotype is preserved across racial groups.
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Authors
Sunaina Yadav, Paul Bentley, Padma Srivastava, Kameshwar Prasad, Pankaj Sharma,