RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
Yoshiko MatsudaAkio Koizumi

Abstract

This study aimed to determine the effectiveness of genetic testing for the p.R4810K variant (rs112735431) of the Mysterin/RNF213 gene, which is associated with moyamoya disease and other intracranial vascular diseases, in the family members of patients with moyamoya disease. We performed genotyping of the RNF213 p.R4810K polymorphism and magnetic resonance angiography on 59 relatives of 18 index patients with moyamoya disease. Nineteen individuals had follow-up magnetic resonance angiography with a mean follow-up period of 7.2 years. Six of the 34 individuals with the GA genotype (heterozygotes for p.R4810K) showed intracranial steno-occlusive lesions in the magnetic resonance angiography, whereas none of the 25 individuals with the GG genotype (wild type) showed any abnormalities. Follow-up magnetic resonance angiography revealed de novo lesions in 2 and disease progression in 1 of the 11 individuals with the GA genotype, despite none of the 8 individuals with the GG genotype showing any changes. Accordingly, 8 individuals had steno-occlusive lesions at the last follow-up, and all had the p.R4810K risk variant. The prevalence of steno-occlusive intracranial arterial diseases in family members with the p.R4810K variant was 23.5...Continue Reading

Citations

May 1, 2019·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Jeffrie HadisuryaMarkus Kraemer
Jun 6, 2019·Journal of Neurology·Markus KraemerMichael Marquardt
Nov 11, 2019·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Shi-Jun LiLi-Qun Liu
Jan 29, 2019·Stroke; a Journal of Cerebral Circulation·Donna M FerrieroUNKNOWN American Heart Association Stroke Council and Council on Cardiovascular and Stroke Nursing
Oct 28, 2019·Translational Stroke Research·Oh Young BangAkio Koizumi
Mar 19, 2020·International Journal of Molecular Sciences·Jinkwon KimNam Keun Kim
Dec 17, 2021·Interventional Neuroradiology : Journal of Peritherapeutic Neuroradiology, Surgical Procedures and Related Neurosciences·Hiroyasu InoueNoriyuki Matsukawa

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