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24.10.2019 | Review Article

Moyamoya Disease and Spectrums of RNF213 Vasculopathy

verfasst von: Oh Young Bang, Jong-Won Chung, Dong Hee Kim, Hong-Hee Won, Je Young Yeon, Chang-Seok Ki, Hyung Jin Shin, Jong-Soo Kim, Seung Chyul Hong, Duk-Kyung Kim, Akio Koizumi

Erschienen in: Translational Stroke Research | Ausgabe 4/2020

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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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Titel: Moyamoya Disease and Spectrums of RNF213 Vasculopathy
verfasst von: Oh Young Bang
Jong-Won Chung
Dong Hee Kim
Hong-Hee Won
Je Young Yeon
Chang-Seok Ki
Hyung Jin Shin
Jong-Soo Kim
Seung Chyul Hong
Duk-Kyung Kim
Akio Koizumi
Publikationsdatum: 24.10.2019
Verlag: Springer US
Erschienen in: Translational Stroke Research / Ausgabe 4/2020
Print ISSN: 1868-4483
Elektronische ISSN: 1868-601X
DOI: https://doi.org/10.1007/s12975-019-00743-6

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