Article
Common NOTCH3 Variants and Cerebral Small-Vessel Disease.
Stroke - 1 Jun 2015
Rutten-Jacobs Loes C A, Traylor Matthew, Adib-Samii Poneh, Thijs Vincent, Sudlow Cathie, Rothwell Peter M, Boncoraglio Giorgio, Dichgans Martin, Bevan Steve, Meschia James, Levi Christopher, Rost Natalia S, Rosand Jonathan, Hassan Ahamad, Markus Hugh S
Abstract excerpt
BACKGROUND AND PURPOSE: The most common monogenic cause of cerebral small-vessel disease is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, caused by NOTCH3 gene mutations. It has been hypothesized that more common variants in NOTCH3 may also contribute to the risk of sporadic small-vessel disease. Previously, 4 common variants (rs10404382, rs1043994, rs10423702, and...
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