| Literature DB >> 12136071 |
J F Arboleda-Velasquez1, F Lopera, E Lopez, M P Frosch, D Sepulveda-Falla, J E Gutierrez, S Vargas, M Medina, C Martinez De Arrieta, R V Lebo, S A Slaugenhaupt, R A Betensky, A Villegas, M Arcos-Burgos, D Rivera, J C Restrepo, K S Kosik.
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor-like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.Entities:
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Year: 2002 PMID： 12136071 DOI： 10.1212/wnl.59.2.277
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910