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01-02-2019 | Original Paper

Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism

Authors: Won-Hyung Kim, Sang-Dae Kim, Myung-Hyun Nam, Jin-Man Jung, Sung-Won Jin, Sung-Kon Ha, Dong-Jun Lim, Hae-Bin Lee

Published in: Child's Nervous System | Issue 2/2019

Abstract

Purpose

Moyamoya disease is a chronic cerebrovascular disorder characterized by progressive stenosis of the circle of Willis with a compensatory collateral vessel network. Recent studies have identified the ring finger protein 213 gene (RNF213) as the unique susceptibility gene for moyamoya disease. The purpose of this study was to compare clinical features of moyamoya disease, especially angiographic findings, between patients with and without the RNF213 mutation.

Methods

Blood samples from 35 patients with moyamoya disease were obtained between May 2016 and May 2017. Information on age at the time of diagnosis, sex, and initial symptom were obtained via retrospective chart review. Angiographic records were evaluated.

Results

RNF213 variants were detected in the 28 of 35 patients (80%), including all pediatric patients (100%) and 18 of 25 adult patients (72%) in our cohort. Leptomeningeal collateral flow from posterior to anterior circulation was more frequent in the RNF213-negative group than in the RNF213-positive group (100% versus 38.9%; p = 0.020). Posterior cerebral arterial territorial involvement was more frequently observed in RNF213-positive patients than in RNF213-negative patients (50% versus 0%; p = 0.027).

Conclusions

RNF213 may play a significant role in the development of collateral anastomoses.

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Title: Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism
Authors: Won-Hyung Kim
Sang-Dae Kim
Myung-Hyun Nam
Jin-Man Jung
Sung-Won Jin
Sung-Kon Ha
Dong-Jun Lim
Hae-Bin Lee
Publication date: 01-02-2019
Publisher: Springer Berlin Heidelberg
Published in: Child's Nervous System / Issue 2/2019
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-018-3985-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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