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Aplastic or twig-like middle cerebral artery with the RNF213 variant: illustrative cases
Ryo Tamura1, Kodai Kume2, Masato Kawakami3
1Department of Neurosurgery, National Hospital Organization Iwakuni Clinical Center, Iwakuni, Yamaguchi.
Journal of Neurosurgery. Case Lessons
|May 25, 2026
Summary
Aplastic or twig-like middle cerebral artery (Ap/T-MCA) is linked to the RNF213 p.R4810K variant. This rare cerebrovascular anomaly may be part of the RNF213-related vasculopathy spectrum, suggesting a hereditary component.
Area of Science:
- Neurology
- Vascular Neurology
- Genetics
Background:
- Aplastic or twig-like middle cerebral artery (Ap/T-MCA) is a rare cerebrovascular anomaly.
- It involves unilateral stenosis of the proximal middle cerebral artery (MCA) with a plexiform arterial network.
- Distinguishing Ap/T-MCA from moyamoya disease is crucial, and genetic confirmation is infrequent.
Purpose of the Study:
- To investigate the potential association between the RNF213 gene variant and Ap/T-MCA.
- To report on cases of Ap/T-MCA with confirmed RNF213 variants.
Main Methods:
- Case series reporting on 3 patients with Ap/T-MCA.
- Clinical presentation, MR angiography, and digital subtraction angiography were used for diagnosis.
- Targeted sequencing was performed to identify RNF213 variants.
Main Results:
- All 3 patients with Ap/T-MCA carried the RNF213 p.R4810K variant.
- Angiography confirmed unilateral MCA abnormalities, M1 stenosis, and a plexiform arterial network.
- This finding is significant as only 2 previous cases with this variant were reported.
Conclusions:
- The RNF213 p.R4810K variant is associated with Ap/T-MCA.
- Ap/T-MCA may be part of the RNF213-related vasculopathy spectrum.
- The occurrence in siblings suggests a hereditary predisposition to this condition.
