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.
Original language | English |
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Pages (from-to) | 207-210 |
Number of pages | 4 |
Journal | Journal of the Neurological Sciences |
Volume | 271 |
Issue number | 1-2 |
DOIs | |
Publication status | Published - Aug 15 2008 |
Keywords
- CADASIL
- GOMs
- Leukoaraiosis
- NOTCH3
- Vascular dementia
ASJC Scopus subject areas
- Ageing
- Clinical Neurology
- Surgery
- Developmental Neuroscience
- Neurology
- Neuroscience(all)