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

Area of Science:

• Neurology
• Genetics
• Vascular Biology

Background:

• Moyamoya disease is a chronic cerebrovascular condition.
• It involves progressive stenosis of the circle of Willis and compensatory collateral vessels.
• The ring finger protein 213 gene (RNF213) is a key susceptibility gene.

Purpose of the Study:

• To compare clinical and angiographic features of moyamoya disease.
• To differentiate between patients with and without RNF213 mutations.

Main Methods:

• Retrospective chart review of 35 moyamoya disease patients.
• Analysis of blood samples for RNF213 variants.
• Evaluation of angiographic records.

Main Results:

• RNF213 variants were found in 80% of patients (100% of pediatric, 72% of adult).
• Posterior to anterior leptomeningeal collateral flow was more common in RNF213-negative patients (100% vs. 38.9%).
• Posterior cerebral artery territory involvement was more frequent in RNF213-positive patients (50% vs. 0%).

Conclusions:

• RNF213 plays a significant role in moyamoya disease.
• The gene influences the development of collateral anastomoses.
• RNF213 status impacts specific angiographic findings.