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Moyamoya Disease and Spectrums of RNF213 Vasculopathy

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Abstract

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. A polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations. MMD was regarded prevalent in childhood and in East Asian populations. However, the so-called MMD could represent only the tip of the iceberg. MMD is increasingly reported in adult patients and in Western populations. Moreover, the RNF213 variant was recently reported to be associated with non-MMD disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and renal artery stenosis). In this review, we summarize the spectrums of RNF213 vasculopathy in terms of clinical and genetic phenotypes. Continuous efforts are required for pathophysiology-based diagnoses and treatment, which will benefit from collaboration between clinicians and researchers, and between stroke and vascular physicians.

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Authors and Affiliations

  1. Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81, Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea

    Oh Young Bang & Jong-Won Chung

  2. Samsung Advanced Institute for Health Sciences and Technology, Samsung Medical Center, Sungkyunkwan University, Seoul, Korea

    Oh Young Bang, Dong Hee Kim & Hong-Hee Won

  3. Translation and Stem Cell Research Laboratory on Stroke, Samsung Medical Center, Seoul, Korea

    Oh Young Bang, Jong-Won Chung & Dong Hee Kim

  4. Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

    Je Young Yeon, Hyung Jin Shin, Jong-Soo Kim & Seung Chyul Hong

  5. Green Cross Genome, Yongin, Gyeonggi-do, Korea

    Chang-Seok Ki

  6. Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

    Duk-Kyung Kim

  7. Institute of Public Health and Welfare Research, Nakagyo-ku, Kyoto, Japan

    Akio Koizumi

  8. Department of Health and Environmental Sciences, Kyoto University, Graduate School of Medicine, Kyoto, Japan

    Akio Koizumi

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  10. Duk-Kyung Kim
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  11. Akio Koizumi
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Correspondence to Oh Young Bang.

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Bang, O.Y., Chung, JW., Kim, D.H. et al. Moyamoya Disease and Spectrums of RNF213 Vasculopathy. Transl. Stroke Res. 11, 580–589 (2020). https://doi.org/10.1007/s12975-019-00743-6

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