title: Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disease characterized by ischemic stroke with early onset, migraine, seizures, and vascular dementia. CADASIL is associated with mutations within NOCT3 gene, mainly clustered in exons 3 and 4. We report a case of CADASIL presenting progressive subcortical dementia in the sixth decade. Neither family history, nor acute ischemic events were present. MRI findings were typical for CADASIL. NOTCH3 analysis disclosed a new missense mutation within exon 7, leading to the substitution of cysteine 366 with a tryptophan (Cys366Trp). Our finding suggests CADASIL diagnosis must be considered in patients with vascular dementia also in absence of stroke-like events and of family history.
authors.affiliation: Division of Neurology and Neurorehabilitation, San Giuseppe Hospital, IRCCS-Istituto Auxologico Italiano, Piancavallo (VB), Italy. pradotto@yahoo.it
authors.forename: L
authors.initials: L
authors.lastname: Pradotto
authors.forename: G
authors.initials: G
authors.lastname: Azan
authors.forename: C
authors.initials: C
authors.lastname: Doriguzzi
authors.forename: C
authors.initials: C
authors.lastname: Valentini
authors.forename: A
authors.initials: A
authors.lastname: Mauro
mesh_terms: D046589:CADASIL / Q000235:genetics* / Q000473:pathology; D003545:Cysteine / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D020125:Mutation, Missense; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics*
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D014364:Tryptophan; D003545:Cysteine