E-Pearl of the Week: Genetic susceptibility in Moyamoya disease

March 14, 2012


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Brought to you by the Resident and Fellow Section of Neurology®.

March 13, 2012

Genetic susceptibility in Moyamoya disease

Moyamoya disease (MMD) is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels, and is a common cause of pediatric stroke.  Recently, the gene RNF213 was identified as a susceptibility gene for Moyamoya disease.  In this issue, Miyatake and colleagues reported that the c.14576G>A variant could be useful as a DNA biomarker for predicting the severe type of MMD, in which early medical/surgical intervention is recommended for prevention of complications.  In their Japanese population, the variant was identified in 95% of familial MMD, 79% of sporadic MMD, and in less than 2% of controls, thus confirming its association with MMD.


1.  Kamada F, Aoki Y, Narisawa A, et al. A genome–wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet. 2011; 56: 34–40
2.  Miyatake S, Miyake N, Touho H, et al. Homozygous c.14576G>A Variant of RNF213 Predicts Early–Onset and Severe Form of Moyamoya Disease. Neurology 2012;78:803–810.

Submitted by: Stacey L. Clardy, MD, PhD

Disclosures: Dr. Clardy serves on the editorial team for the Neurology® Resident and Fellow Section.

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