title: [A new Spanish family with CADASIL associated with 346C>T mutation of NOTCH3 gene].
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset inherited condition characterized by migraine, recurrent strokes, and subcortical dementia. Other manifestations as psychiatric disturbances, seizures, hypoacusia or learning disorders have been reported. CADASIL may be suspected based on clinical syndrome, a positive family history, and a typical cranial magnetic resonance image with T2/FLAIR hyperintense signals in the temporopolar white matter or the external capsule. Bilateral white matter abnormalities are invariably seen and often small subcortical infarcts are also present. Accumulation of the granular osmiophilic material on skin biopsy may help in diagnosis. Mutations in the NOTCH3 gene localized in chromosome 19 are involved in its pathogenesis. Only 11 families from Spain have been reported. Here we describe two members of a family with clinical symptoms and neuroimaging of CADASIL. The skin biopsy was negative. In both patients 346C>T mutation in exon 3 of NOTCH3 gene was found. There is the first Spanish family reported with CADASIL, caused by the 346C > T mutation in NOTCH3 gene which was frequently described in the European series.
authors.affiliation: Servicio de Neurología, Hospital General de l'Hospitalet, Consorci Sanitari Integral, L'Hospitalet de Llobregat, Barcelona. asuncion.avila@sanitatintegral.org
authors.forename: A
authors.initials: A
authors.lastname: Avila
authors.forename: J
authors.initials: J
authors.lastname: Bello
authors.forename: P
authors.initials: P
authors.lastname: Maho
authors.forename: M I
authors.initials: MI
authors.lastname: Gómez
mesh_terms: D000328:Adult; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D002888:Chromosomes, Human, Pair 19; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D013030:Spain
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch