Abstract
Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease characterized by progressive stenosis at the distal internal carotid artery and an abnormal vascular network at the base of the brain. Genetic studies have identified RNF213 in the 17q25-ter region as an important susceptibility gene. A c.14576G>A polymorphism in RNF213 was identified in more than 75% of East Asian MMD patients. Due possibly to genetic differences, the prevalence of MMD is higher in East Asia than in Western countries. The prevalence peaks at two ages, around 10years and at 30–50years. Ischemic symptoms, especially transient ischemic attacks, predominate in children, whereas intracranial hemorrhages are relatively more common in adults. Catheter angiography is a diagnostic method of choice. Magnetic resonance angiography, computed tomography angiography, and high-resolution vessel-wall magnetic resonance imaging are also useful in diagnosing MMD. Direct or indirect surgical revascularization is the preferred procedure for MMD patients presenting with ischemic stroke.
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