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Moyamoya Disease and Spectrums of RNF213 Vasculopathy
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Journal Article
Moyamoya Disease and Spectrums of RNF213 Vasculopathy
2020
Overview
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.
Publisher
Springer US,Springer Nature B.V
Subject
Adenosine Triphosphatases - genetics
/ Animals
/ Biomedical and Life Sciences
/ Cerebrovascular Disorders - genetics
/ Cerebrovascular Disorders - physiopathology
/ Genes
/ Genetic Predisposition to Disease
/ Humans
/ Ischemia
/ Moyamoya Disease - physiopathology
