RNF213 R4810K Variant in Suspected Unilateral Moyamoya Disease Predicts Contralateral Progression.

ABSTRACT: Background Early-stage unilateral moyamoya disease (MMD) is difficult to discriminate from isolated intracranial atherosclerotic stenosis, and identification of contralateral progression may aid in the diagnosis of MMD. The RNF213 (ring finger protein 213) R4810K variant is a strong genetic susceptibility factor for MMD; however, the role of contralateral progression in unilateral MMD is unknown. Methods and Results Patients who had undergone RNF213 R4810K genotyping with suspected unilateral MMD between January 2017 and August 2021 from 2 tertiary university hospitals were retrospectively reviewed. We compared the clinical features and radiographic outcomes of patients with and without this variant. The risk factors of contralateral progression in patients with suspected unilateral

SUBMITTER: Ok T 

PROVIDER: S-EPMC9375476 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature