A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

Acta Neurol Belg. 2013 Sep;113(3):299-302. doi: 10.1007/s13760-012-0174-2. Epub 2013 Jan 15.

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / pathology
  • CADASIL / genetics*
  • Cysteine / genetics*
  • Family Health
  • Female
  • Genetic Testing
  • Glycine / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Mutation / genetics*
  • Receptor, Notch3
  • Receptors, Notch / genetics*
  • Serbia

Substances

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