C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
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.
Arboleda-Velasquez
J F
JF
Center for Neurological Diseases, Brigham and Women's Hospital-Harvard Medical School, Boston, MA, USA.
Lopera
F
F
Lopez
E
E
Frosch
M P
MP
Sepulveda-Falla
D
D
Gutierrez
J E
JE
Vargas
S
S
Medina
M
M
Martinez De Arrieta
C
C
Lebo
R V
RV
Slaugenhaupt
S A
SA
Betensky
R A
RA
Villegas
A
A
Arcos-Burgos
M
M
Rivera
D
D
Restrepo
J C
JC
Kosik
K S
KS
D000328:Adult; D017668:Age of Onset; D000368:Aged; D001120:Arginine / Q000378:metabolism; D003105:Colombia; D003545:Cysteine / Q000378:metabolism; D004252:DNA Mutational Analysis; D015161:Dementia, Multi-Infarct / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020521:Stroke / Q000235:genetics*
D001120:Arginine; D003545:Cysteine