Won-Hyung Kim1, Sang-Dae Kim2, Myung-Hyun Nam3, Jin-Man Jung4, Sung-Won Jin1, Sung-Kon Ha1, Dong-Jun Lim1, Hae-Bin Lee1. 1. Department of Neurosurgery, Korea University Medical Center, Ansan Hospital, 123 Jeokgeum-ro, Danwon-gu, Ansan, Gyeonggi-do, 15355, South Korea. 2. Department of Neurosurgery, Korea University Medical Center, Ansan Hospital, 123 Jeokgeum-ro, Danwon-gu, Ansan, Gyeonggi-do, 15355, South Korea. neuron19@korea.ac.kr. 3. Department of Laboratory Medicine, Korea University Medical Center, Ansan Hospital, Ansan, South Korea. 4. Department of Neurology, Korea University Medical Center, Ansan Hospital, Ansan, South Korea.
Abstract
PURPOSE: Moyamoya disease is a chronic cerebrovascular disorder characterized by progressive stenosis of the circle of Willis with a compensatory collateral vessel network. Recent studies have identified the ring finger protein 213 gene (RNF213) as the unique susceptibility gene for moyamoya disease. The purpose of this study was to compare clinical features of moyamoya disease, especially angiographic findings, between patients with and without the RNF213 mutation. METHODS: Blood samples from 35 patients with moyamoya disease were obtained between May 2016 and May 2017. Information on age at the time of diagnosis, sex, and initial symptom were obtained via retrospective chart review. Angiographic records were evaluated. RESULTS: RNF213 variants were detected in the 28 of 35 patients (80%), including all pediatric patients (100%) and 18 of 25 adult patients (72%) in our cohort. Leptomeningeal collateral flow from posterior to anterior circulation was more frequent in the RNF213-negative group than in the RNF213-positive group (100% versus 38.9%; p = 0.020). Posterior cerebral arterial territorial involvement was more frequently observed in RNF213-positive patients than in RNF213-negative patients (50% versus 0%; p = 0.027). CONCLUSIONS: RNF213 may play a significant role in the development of collateral anastomoses.
PURPOSE:Moyamoya disease is a chronic cerebrovascular disorder characterized by progressive stenosis of the circle of Willis with a compensatory collateral vessel network. Recent studies have identified the ring finger protein 213 gene (RNF213) as the unique susceptibility gene for moyamoya disease. The purpose of this study was to compare clinical features of moyamoya disease, especially angiographic findings, between patients with and without the RNF213 mutation. METHODS: Blood samples from 35 patients with moyamoya disease were obtained between May 2016 and May 2017. Information on age at the time of diagnosis, sex, and initial symptom were obtained via retrospective chart review. Angiographic records were evaluated. RESULTS:RNF213 variants were detected in the 28 of 35 patients (80%), including all pediatric patients (100%) and 18 of 25 adult patients (72%) in our cohort. Leptomeningeal collateral flow from posterior to anterior circulation was more frequent in the RNF213-negative group than in the RNF213-positive group (100% versus 38.9%; p = 0.020). Posterior cerebral arterial territorial involvement was more frequently observed in RNF213-positive patients than in RNF213-negative patients (50% versus 0%; p = 0.027). CONCLUSIONS:RNF213 may play a significant role in the development of collateral anastomoses.
Authors: R Mertens; M Graupera; H Gerhardt; A Bersano; E Tournier-Lasserve; M A Mensah; S Mundlos; P Vajkoczy Journal: Transl Stroke Res Date: 2021-09-16 Impact factor: 6.829