Migraine with aura and white matter abnormalities: Notch3 mutation

Neurology. 2000 May 9;54(9):1869-71. doi: 10.1212/wnl.54.9.1869.

Abstract

The authors report on an Italian family with eight affected members who show autosomal dominant migraine with prolonged visual, sensory, motor, and aphasic aura. These symptoms are associated with white matter abnormalities on brain MRI. All living affected members carry a Notch3 mutation (Arg153Cys) previously reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). White matter abnormalities occur in a variable percentage of the general migraine population; CADASIL should be suspected in migraineurs with prolonged atypical aura and white matter abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Dementia, Multi-Infarct / diagnosis
  • Dementia, Multi-Infarct / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Migraine Disorders / diagnosis
  • Migraine Disorders / genetics*
  • Mutation, Missense / genetics*
  • Pedigree
  • 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