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Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism
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Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism
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Journal Article
Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism
2019
Overview
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.
Publisher
Springer Berlin Heidelberg,Springer Nature B.V
Subject
Adenosine Triphosphatases - genetics
/ Adult
/ Cerebrovascular Circulation - physiology
/ Child
/ Collateral Circulation - physiology
/ Female
/ Females
/ Humans
/ Ischemia
/ Male
/ Medicine
/ Moyamoya Disease - pathology
/ Mutation
/ Patients
/ Polymorphism, Single Nucleotide
