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Case Reports
. 2009 Nov;16(11):1492-3.
doi: 10.1016/j.jocn.2009.01.019. Epub 2009 Aug 15.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka

K R D De Silva  1 , R Gamage, Janavi Dunuwille, D Gunarathna, D Sirisena, A Weerasinghe, P H Amarasinghe, Akiko Hosomi, Toshiki Mizuno
Affiliations
Case Reports

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka

K R D De Silva et al. J Clin Neurosci. 2009 Nov.

Abstract

We report the first patient from Sri Lanka (the third patient from the Indian subcontinent) with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The patient experienced a young onset familial stroke with an 856T>G missense mutation in exon 5 of the NOTCH3 gene resulting in a C260G mutation in the sixth epidermal growth factor-like repeat. We believe this is the first reported Sri Lankan patient. CADASIL is probably underdiagnosed in the region.

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