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• W2082021124 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." @default.
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• W2082021124 date "2008-08-01" @default.
• W2082021124 modified "2023-10-16" @default.
• W2082021124 title "Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene" @default.
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• W2082021124 doi "https://doi.org/10.1016/j.jns.2008.04.015" @default.
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