Early Severe Moyamoya Disease Due to a Monoallelic

Authors

• Samuel J Belfer
• Rohan Vij
• Lauren A Beslow
• Craig Press
• Dhyanam P Shukla
• Laura DiDomenico
• Arastoo Vossough
• Laura Caligiuri
• Shih-Shen L Chen
• Adam J Kundishora

Publication/Presentation Date

10-1-2026

Abstract

Moyamoya disease (MMD) is an arteriopathy causing pediatric ischemic stroke and is characterized by progressive stenosis of the intracranial internal carotid arteries. Although genetic risk factors have been identified, the pathogenesis of MMD remains incompletely understood, and significant gaps persist in linking genetic variation to disease mechanisms and outcomes. We describe ex-30 week monozygotic twins presenting with recurrent ischemic events beginning in infancy found to have bilateral terminal internal carotid artery stenosis consistent with MMD. Two rounds of clinical genetic testing were performed, revealing a novel de novo missense variant in

Volume

12

Issue

5

First Page

200434

Last Page

200434

ISSN

2376-7839

Published In/Presented At

Belfer, S. J., Vij, R., Beslow, L. A., Press, C., Shukla, D. P., DiDomenico, L., Vossough, A., Caligiuri, L., Allison Hyland, Chen, S. L., & Kundishora, A. J. (2026). Early Severe Moyamoya Disease Due to a Monoallelic RNF213 Variant in Monozygotic Twins. Neurology. Genetics, 12(5), e200434. https://doi.org/10.1212/NXG.0000000000200434

Disciplines

Medicine and Health Sciences | Pediatrics

PubMedID

42840539

Department(s)

Department of Pediatrics

Document Type

Article