NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

Neurology. 2001 Nov 13;57(9):1714-7. doi: 10.1212/wnl.57.9.1714.

Abstract

Mutations in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary angiopathy causing stroke and vascular dementia. All CADASIL mutations identified so far result in the loss or gain of one cysteine residue within epidermal growth factor (EGF)-like repeat domains. Here an in-frame deletion causing a loss of three cysteine residues within EGF repeat 6 is reported. These data are consistent with the hypothesis that the change toward an odd number of cysteine residues within a given EGF repeat and therefore an unpaired, reactive cysteine residue is the common and critical molecular event in CADASIL.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Cysteine / genetics
  • DNA Mutational Analysis
  • Dementia, Multi-Infarct / genetics*
  • Family Health
  • Female
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Proto-Oncogene Proteins / genetics*
  • Receptor, Notch3
  • Receptors, Cell Surface*
  • Receptors, Notch
  • Repetitive Sequences, Nucleic Acid

Substances

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