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Medline ® Abstract for Reference 78

of 'Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)'

78
TI
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
AU
Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE, Vargas S, Medina M, Martinez De Arrieta C, Lebo RV, Slaugenhaupt SA, Betensky RA, Villegas A, Arcos-Burgos M, Rivera D, Restrepo JC, Kosik KS
SO
Neurology. 2002;59(2):277.
 
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.
AD
Center for Neurological Diseases, Brigham and Women's Hospital-Harvard Medical School, Boston, MA, USA.
PMID