Interested in submitting an e–Pearl? Click here!
Brought to you by the Resident and Fellow Section of Neurology®.
March 13, 2012
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.
For more clinical pearls and other articles of interest to neurology trainees, visit www.neurology.org and click on the link to the Resident and Fellow Pages. Click here to visit the E–Pearl of the Week Archive.
Click here to listen to this week's Neurology® Podcast.