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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.
Aims:
This study aimed to investigate the characteristics, predictors, and clinical significance of periventricular anastomosis (PA) regression following revascularization in moyamoya disease (MMD).
Methods:
We conducted a longitudinal cohort study involving patients with MMD treated at our hospital between 2019 and 2023. Demographic, radiological findings, and clinical outcomes were recorded. C-terminal region of ring finger protein 213 (RNF213) was sequenced. Additionally, structural changes of the RNF213 variants were evaluated using a three-dimensional model of the human RNF213 protein.
Results:
Of 305 eligible patients, 103 experienced postoperative PA regression. Among the subtypes of PA, those derived from the lenticulostriate, anterior choroidal, and thalamotuberal arteries exhibited significant regression. Multivariate analysis identified age (p = 0.030), Suzuki stage (III-IV) (p = 0.043), preoperative PA score (p < 0.001), RNF213 p.R4810K variant (p = 0.019), other RNF213 rare variants (p = 0.004), and postoperative Matsushima grading (p < 0.001) were associated with postoperative PA regression. The risk of future hemorrhage was significantly higher in the non-PA regression group (p = 0.040). 80% of rare variants without structural changes did not exhibit PA regression.
Conclusions:
RNF213 variants in the C-terminal region are associated with PA regression, underscoring a broader genotype-phenotype correlation. Furthermore, PA regression might be considered a potential radiological marker to predict the risk of future hemorrhage in MMD patients.
Insights
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.
- 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.