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

J. F. Arboleda-Velasquez, 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

Research output: Contribution to journalArticlepeer-review

48 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)277-279
Number of pages3
JournalNeurology
Volume59
Issue number2
DOIs
StatePublished - Jul 23 2002

ASJC Scopus subject areas

  • Clinical Neurology

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