Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka.
We report the first patient from Sri Lanka (the third patient from the Indian subcontinent) with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The patient experienced a young onset familial stroke with an 856T>G missense mutation in exon 5 of the NOTCH3 gene resulting in a C260G mutation in the sixth epidermal growth factor-like repeat. We believe this is the first reported Sri Lankan patient. CADASIL is probably underdiagnosed in the region.
De Silva
K R D
KR
Department of Anatomy, Faculty of Medical Sciences, University of Sri Jayewardenepura, Gangodawila, Nugegoda, Sri Lanka. ranilds@sltnet.lk
Gamage
R
R
Dunuwille
Janavi
J
Gunarathna
D
D
Sirisena
D
D
Weerasinghe
A
A
Amarasinghe
P H
PH
Hosomi
Akiko
A
Mizuno
Toshiki
T
D046589:CADASIL / Q000235:genetics* / Q000473:pathology*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D013188:Sri Lanka
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch