Moyamoya Disease (I)

  • Japanese expression „hazy just like a puff of cigarette smoke drifting in the air“
  • First described by Suzuki and Takaku in 1969
  • Nonatherosclerotic, noninflammatory vasculopathy
  • Intimal hyperplasia, smooth muscle cell proliferation
  • Progressive stenosis and occlusion of affected large vessels
  • Irregular collateral networks in basal ganglia
  • Highest incidence in Japanese and other East Asian population
  • Familial forms in 15% of cases
    • Associated with mutation in the RNF213 gene on chromosome 17q25.3
    • Autosomal dominant with incomplete penetrance