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Related Experiment Video

Updated: Jun 14, 2026

A Model for Encephalomyosynangiosis Treatment after Middle Cerebral Artery Occlusion-Induced Stroke in Mice
06:54

A Model for Encephalomyosynangiosis Treatment after Middle Cerebral Artery Occlusion-Induced Stroke in Mice

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RNF213 Variants Associated With Periventricular Anastomosis Regression After Revascularization in Moyamoya Disease.

Youyuan Bao1,2,3,4, Chaofan Zeng1,2,3,4, Yimeng Xue1,5

  • 1Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

CNS Neuroscience & Therapeutics
|June 13, 2026
PubMed
Summary

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Periventricular anastomosis (PA) regression after revascularization in moyamoya disease (MMD) is linked to RNF213 variants. PA regression may predict future hemorrhage risk in MMD patients.

Area of Science:

  • Neurology
  • Vascular Surgery
  • Genetics

Background:

  • Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis of intracranial arteries.
  • Revascularization surgery is a common treatment for MMD, aiming to restore blood flow to the brain.
  • Periventricular anastomosis (PA) is a collateral network that can form in MMD, but its regression post-surgery is not fully understood.

Purpose of the Study:

  • To investigate the characteristics and predictors of periventricular anastomosis (PA) regression after revascularization in moyamoya disease (MMD).
  • To determine the clinical significance of PA regression in predicting future hemorrhage risk.
  • To explore the association between RNF213 gene variants and PA regression.

Main Methods:

  • A longitudinal cohort study of 305 MMD patients undergoing revascularization between 2019 and 2023.
Keywords:
RNF213cerebral revascularizationintracranial hemorrhagemoyamoya diseaseperiventricular anastomosis

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  • Collection of demographic data, radiological findings (including Suzuki stage and Matsushima grading), and clinical outcomes.
  • Sequencing of the C-terminal region of RNF213 and evaluation of RNF213 variants using 3D protein modeling.

    • Main Results:

    • Postoperative PA regression occurred in 103 patients, particularly from lenticulostriate, anterior choroidal, and thalamotuberal arteries.
    • Predictors of PA regression included age, Suzuki stage (III-IV), preoperative PA score, RNF213 p.R4810K variant, other rare RNF213 variants, and postoperative Matsushima grading.
    • The non-PA regression group had a significantly higher risk of future hemorrhage (p=0.040).

    Conclusions:

    • RNF213 variants in the C-terminal region are associated with PA regression in MMD, indicating a genotype-phenotype correlation.
    • PA regression may serve as a radiological marker for predicting hemorrhage risk in MMD patients.
    • Further research into RNF213 variants and their structural impact can elucidate PA regression mechanisms.