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

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.

• Autores: Arboleda Velásquez, Joseph Fitzgerald; Lopera Restrepo, Francisco Javier; López Alzate, María Elizabeth; Frosch, Matthew P.; Sepúlveda Falla, Diego; Gutiérrez, Juan E.; Vargas, S.; Álvarez Medina, María de Lourdes; Medina, M.; Martínez de Arrieta, C.; Lebo, R. V.; Slaugenhaupt, S. A.; Betensky, Rebecca A.; Sánchez Villegas, Almudena; Arcos Burgos, Oscar Mauricio; Rivera, D.; Restrepo Medrano, Juan Carlos; Kosik, Kenneth S.
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2002
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/24425
• Acceso en línea: http://hdl.handle.net/10495/24425
• Palabra clave: Receptor Notch3; Receptor, Notch3; CADASIL; Accidente Cerebrovascular; Stroke
• Rights: openAccess
• License: http://creativecommons.org/licenses/by-nc-nd/2.5/co/