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 journalArticle


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
Issue number2
StatePublished - Jul 23 2002


ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Arboleda-Velasquez, J. F., Lopera, F., Lopez, E., Frosch, M. P., Sepulveda-Falla, D., Gutierrez, J. E., Vargas, S., Medina, M., Martinez De Arrieta, C., Lebo, R. V., Slaugenhaupt, S. A., Betensky, R. A., Villegas, A., Arcos-Burgos, M., Rivera, D., Restrepo, J. C., & Kosik, K. S. (2002). C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology, 59(2), 277-279. https://doi.org/10.1212/WNL.59.2.277