F ound in East Asia, particularly Korea and Japan, moyamoya disease (MMD) is an uncommon cerebrovascular disease characterized by progressive occlusion of the terminal portions of the internal carotid arteries (ICAs). 11,12 Recent epidemiological study has revealed that the number of patients with MMD in Korea is increasing and that the prevalence rate of MMD per 100,000 people increased to 9.0 in 2008 from 5.2 in 2004. 5 Moyamoya disease is a relatively common cause of childhood stroke, 1,19 and it can lead to irreversible neurological deficits and cognitive impairment; therefore, early diagnosis and proper therapeutic approaches are important.The etiology of MMD remains unclear, but several epidemiological risk factors are apparent. These include East Asian ethnicity, female sex, and family history of MMD. Some known genetic disorders present with moyamoyalike findings on cerebral angiography, suggesting that genetic factors may underlie MMD pathogenesis.13,25 AlabbreviatioNs ICA = internal carotid artery; MCA = middle cerebral artery; MMD = moyamoya disease; PCA = posterior cerebral artery; SNP = single nucleotide polymorphism; TIA = transient ischemic attack.
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