アカガワ　ヒロユキ   AKAGAWA HIROYUKI   赤川　浩之    所属   研究施設 研究施設    職種   准教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis?
掲載誌名	正式名：Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 略　 称：J Stroke Cerebrovasc Dis ISSNコード：15328511/10523057
掲載区分	国外
巻・号・頁	29(2),pp.104532
著者・共著者	Nomura Shunsuke, Aihara Yasuo, Akagawa Hiroyuki, Chiba Kentaro, Yamaguchi Koji, Kawashima Akitsugu, Okada Yoshikazu, Kawamata Takakazu
発行年月	2020/02
概要	Diseases associated with the RNF213 gene include moyamoya disease, with the p.R4810K (c.14429G>A, rs112735431) homozygous variant thought to be the most pathogenic and significantly associated with severe manifestation such as early onset or cerebral infarction at onset. We report a case of a unique Japanese pedigree associated with RNF213. A 53-year-old woman with no arteriosclerotic risk factors experienced coronary artery disease, followed by coronary artery bypass surgery. In 8 years, she suffered sudden abdominal pain. Her abdominal contrast computed tomography revealed stenosis of abdominal artery and superior mesenteric artery. Though her 2 children and uncle had a typical moyamoya disease with RNF213 p.R4810K heterozygous variant, she has had no clinical and radiological evidence of moyamoya disease. Due to a family history of moyamoya disease, a genetic investigation was performed and revealed RNF213 p.R4810K homozygous variant. A possible role of RNF213 influencing systemic artery stenosis can be further be understood from this rare case harboring the homozygous variant carrier.
DOI	10.1016/j.jstrokecerebrovasdis.2019.104532
PMID	31806452