C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

Neurology. 2002 Jul 23;59(2):277-9. doi: 10.1212/wnl.59.2.277.

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor-like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Arginine / metabolism
  • Colombia
  • Cysteine / metabolism
  • DNA Mutational Analysis
  • Dementia, Multi-Infarct / genetics*
  • Female
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Stroke / genetics*

Substances

  • Arginine
  • Cysteine