RESUMO

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.

Assuntos

Demência por Múltiplos Infartos/genética , Mutação , Acidente Vascular Cerebral/genética , Adulto , Idade de Início , Idoso , Arginina/metabolismo , Colômbia , Cisteína/metabolismo , Análise Mutacional de DNA , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade