title: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel C82R mutation in the NOTCH3 gene.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare inherited cerebrovascular disease associated with mutations in the NOTCH3 gene on chromosome 19, and represents the most common hereditary stroke disorder. We describe a pedigree, which suffered the classical clinical CADASIL pattern of migraine headaches, recurrent subcortical infarcts, and subcortical dementia, associated with a previously undescribed missense mutation (c.[244T>C], p.[C82R]) in NOTCH3. This new mutation extends the list of known pathogenic mutations responsible for CADASIL, which are associated with an odd number of cysteine residues within any of the epidermal growth factor-like repeats of Notch3 receptor protein.
authors.affiliation: Alzheimer Disease Research Unit, CIEN Foundation, Carlos III Institute of Health, Alzheimer Center Reina Sofia Foundation, Madrid, Spain.
authors.forename: M Ascensión
authors.initials: MA
authors.lastname: Zea-Sevilla
authors.affiliation: Hospital Puerta de Hierro, Servicio de Neurología, Madrid, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Bermejo-Velasco
authors.affiliation: Hospital Universitario del Henares, Servicio de Medicina Interna, Madrid, Spain.
authors.forename: Regino
authors.initials: R
authors.lastname: Serrano-Heranz
authors.affiliation: Alzheimer Disease Research Unit, CIEN Foundation, Carlos III Institute of Health, Alzheimer Center Reina Sofia Foundation, Madrid, Spain Chronic Disease Programme and CIBERNED, Carlos III Institute of Health, Madrid, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Calero
mesh_terms: D000368:Aged; D001120:Arginine / Q000235:genetics*; D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000235:genetics* / Q000473:pathology; D003545:Cysteine / Q000235:genetics*; D005192:Family Health; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D001120:Arginine; D003545:Cysteine
keywords: C82R; CADASIL; NOTCH3 mutation; Notch3 receptor protein; dementia; headache; migraine; stroke