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Moyamoya Disease.

Miki Fujimura, Oh Young Bang, Jong S Kim

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    |December 14, 2016
    PubMed
    Summary
    This summary is machine-generated.

    Moyamoya disease (MMD) is a rare cerebrovascular condition. A specific RNF213 gene variant is strongly linked to MMD, particularly in East Asians, influencing disease severity and onset.

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    Area of Science:

    • Neurology
    • Genetics
    • Vascular Biology

    Background:

    • Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease.
    • It involves progressive stenosis of the internal carotid artery and abnormal basal brain vasculature.
    • The RNF213 gene is a key susceptibility gene, especially in East Asian populations.

    Purpose of the Study:

    • To summarize the genetic basis, epidemiology, clinical presentation, diagnosis, and treatment of Moyamoya disease.
    • To highlight the role of the RNF213 c.14576G>A polymorphism.

    Main Methods:

    • Review of genetic studies identifying RNF213 as an MMD susceptibility gene.
    • Analysis of epidemiological data on MMD prevalence and demographics.
    • Summary of diagnostic methods including angiography and MRI.
    • Overview of surgical revascularization techniques and outcomes.

    Main Results:

    • The RNF213 c.14576G>A polymorphism is found in most MMD patients (95% familial, 79% sporadic) and correlates with earlier, more severe disease.
    • MMD prevalence is higher in East Asia, with bimodal peaks in children (around 10 years) and adults (30-45 years).
    • Ischemic symptoms are common in both age groups, while intracranial hemorrhages are more frequent in adults.

    Conclusions:

    • RNF213 is a major genetic determinant for Moyamoya disease, particularly in East Asians.
    • Early diagnosis via angiography and MRI, followed by surgical revascularization, is crucial for managing MMD.
    • Understanding genetic factors and clinical presentations guides effective treatment strategies for MMD.