World Stroke Organization Genetic Mutations in Stroke
Lessons
Course Content
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
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