RESUMEN

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.

Asunto(s)

Demencia por Múltiples Infartos/genética , Mutación , Accidente Cerebrovascular/genética , Adulto , Edad de Inicio , Anciano , Arginina/metabolismo , Colombia , Cisteína/metabolismo , Análisis Mutacional de ADN , Femenino , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad