Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2002 Jul 23;59(2):277-9.
doi: 10.1212/wnl.59.2.277.

C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

J F Arboleda-Velasquez  1 , 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
Affiliations

C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

J F Arboleda-Velasquez et al. Neurology. .

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.

PubMed Disclaimer

Publication types

LinkOut - more resources