Child's Nervous System

, Volume 35, Issue 2, pp 309–314 | Cite as

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

  • Won-Hyung Kim
  • Sang-Dae KimEmail author
  • Myung-Hyun Nam
  • Jin-Man Jung
  • Sung-Won Jin
  • Sung-Kon Ha
  • Dong-Jun Lim
  • Hae-Bin Lee
Original Paper



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.


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.


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).


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


RNF213 Moyamoya disease Cerebrovascular disorder Collateral anastomoses 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of NeurosurgeryKorea University Medical Center, Ansan HospitalAnsanSouth Korea
  2. 2.Department of Laboratory MedicineKorea University Medical Center, Ansan HospitalAnsanSouth Korea
  3. 3.Department of NeurologyKorea University Medical Center, Ansan HospitalAnsanSouth Korea

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