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

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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish
JournalChild's Nervous System
DOIs
Publication statusAccepted/In press - 2018 Jan 1

Fingerprint

Moyamoya Disease
Collateral Circulation
Fingers
Proteins
Circle of Willis
Cerebrovascular Disorders
Pathologic Constriction
Pediatrics
Mutation

Keywords

  • Cerebrovascular disorder
  • Collateral anastomoses
  • Moyamoya disease
  • RNF213

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

@article{f8ad9bd1d2cf471f94ed8a49197cd544,
title = "Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism",
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.",
keywords = "Cerebrovascular disorder, Collateral anastomoses, Moyamoya disease, RNF213",
author = "Kim, {Won Hyung} and Sang-Dae Kim and Myung-Hyun Nam and Jin-Man Jung and Jin, {Sung Won} and Sung-Kon Ha and Lim, {Dong Jun} and Lee, {Hae Bin}",
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language = "English",
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TY - JOUR

T1 - Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism

AU - Kim, Won Hyung

AU - Kim, Sang-Dae

AU - Nam, Myung-Hyun

AU - Jung, Jin-Man

AU - Jin, Sung Won

AU - Ha, Sung-Kon

AU - Lim, Dong Jun

AU - Lee, Hae Bin

PY - 2018/1/1

Y1 - 2018/1/1

N2 - 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.

AB - 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.

KW - Cerebrovascular disorder

KW - Collateral anastomoses

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KW - RNF213

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