Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene

L. Pradotto, G. Azan, C. Doriguzzi, C. Valentini, A. Mauro

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)207-210
Number of pages4
JournalJournal of the Neurological Sciences
Volume271
Issue number1-2
DOIs
Publication statusPublished - Aug 15 2008

Keywords

  • CADASIL
  • GOMs
  • Leukoaraiosis
  • NOTCH3
  • Vascular dementia

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

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