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Akitsugu Kawashima
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Associate Professor |
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| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis? |
| Journal | Formal name：Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association Abbreviation：J Stroke Cerebrovasc Dis ISSN code：15328511/10523057 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 29(2),pp.104532 |
| Author and coauthor | Nomura Shunsuke, Aihara Yasuo, Akagawa Hiroyuki, Chiba Kentaro, Yamaguchi Koji, Kawashima Akitsugu, Okada Yoshikazu, Kawamata Takakazu |
| Publication date | 2020/02 |
| Summary | 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 |