Two Japanese CADASIL families with a R141C mutation in the Notch3 gene

Intern Med. 2001 Nov;40(11):1144-8. doi: 10.2169/internalmedicine.40.1144.

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary disease characterized by recurrent transient ischemic attacks (TIA) and strokes, and vascular dementia with Notch3 gene mutations as the cause of the disease. To date, there are only a few Japanese families ever reported with a mutation in the gene. Here, we report two more Japanese CADASIL families carrying a missense mutation in the Notch3 gene (R141C) with a unique lesion in the corpus callosum. This is the first report of two unrelated Japanese CADASIL families with a R141C mutation in the Notch3 gene. Although the disease is very rare among the Japanese population, our result suggests a possible relationship of this particular mutation (R141C) with the lesions of the corpus callosum.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum*
  • Arginine / genetics*
  • Cysteine / genetics*
  • DNA Mutational Analysis
  • Dementia, Multi-Infarct / genetics*
  • Female
  • Humans
  • Middle Aged
  • Mutation, Missense*
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins / analysis
  • Proto-Oncogene Proteins / genetics*
  • Receptor, Notch3
  • Receptors, Cell Surface*
  • Receptors, Notch

Substances

  • NOTCH3 protein, human
  • Proto-Oncogene Proteins
  • Receptor, Notch3
  • Receptors, Cell Surface
  • Receptors, Notch
  • Arginine
  • Cysteine