title: The first Indian-origin family with genetically proven cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
abstract: We report the first family of Indian origin known to be affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Seventeen members of the family spanning 3 generations had neurologic syndromes compatible with CADASIL, of whom 5 were genetically confirmed carriers of the Notch3 gene R141C mutation in exon 4 (421(C→T) and 141(Cys→Arg)). Our report highlights that CADASIL not only occurs sporadically in South Asians, but also may account for stroke in South Asians with a strong family history. Furthermore, the similarity of clinical presentations described here to those typical for Caucasian case series suggests that the CADASIL phenotype is preserved across racial groups.
authors: Imperial College Cerebrovascular Research Unit, Imperial College, London, UK.
authors: Sunaina
authors: S
authors: Yadav
authors: Paul
authors: P
authors: Bentley
authors: Padma
authors: P
authors: Srivastava
authors: Kameshwar
authors: K
authors: Prasad
authors: Pankaj
authors: P
authors: Sharma
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D046589:CADASIL / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India / Q000208:ethnology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009420:Nervous System / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D014918:Wills; D055815:Young Adult
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch