Details

Autor(en) / Beteiligte

• 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

Titel

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

Ist Teil von

• Neurology, 2002-07, Vol.59 (2), p.277

Ort / Verlag

United States

Erscheinungsjahr

2002

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.