Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation

Neurol Sci. 2007 Aug;28(4):181-4. doi: 10.1007/s10072-007-0817-x. Epub 2007 Aug 10.

Abstract

CADASIL is an autosomal dominant arteriopathy characterised by diffuse white matter lesions and small subcortical infarcts on neuroimaging and a variable combination of recurrent cerebral ischaemic episodes, cognitive deficits, migraine with aura and psychiatric symptoms. It is caused by mutations in the NOTCH3 gene encoding a NOTCH3 receptor protein. Here, we describe the genetical, clinical, neuropsychological and neuroimaging findings in an Italian CADASIL patient with a rare mutation in exon 10 leading to a Gly528Cys substitution.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • CADASIL / genetics*
  • CADASIL / pathology
  • Cystine / genetics*
  • Exons / genetics*
  • Family Health
  • Female
  • Glycine / genetics*
  • Humans
  • Italy
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation*
  • Receptor, Notch3
  • Receptors, Notch / genetics*

Substances

  • NOTCH3 protein, human
  • Receptor, Notch3
  • Receptors, Notch
  • Cystine
  • Glycine