title: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka.
abstract: 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.
authors.affiliation: Department of Anatomy, Faculty of Medical Sciences, University of Sri Jayewardenepura, Gangodawila, Nugegoda, Sri Lanka. ranilds@sltnet.lk
authors.forename: K R D
authors.initials: KR
authors.lastname: De Silva
authors.forename: R
authors.initials: R
authors.lastname: Gamage
authors.forename: Janavi
authors.initials: J
authors.lastname: Dunuwille
authors.forename: D
authors.initials: D
authors.lastname: Gunarathna
authors.forename: D
authors.initials: D
authors.lastname: Sirisena
authors.forename: A
authors.initials: A
authors.lastname: Weerasinghe
authors.forename: P H
authors.initials: PH
authors.lastname: Amarasinghe
authors.forename: Akiko
authors.initials: A
authors.lastname: Hosomi
authors.forename: Toshiki
authors.initials: T
authors.lastname: Mizuno
mesh_terms: 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
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch