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Intracranial atherosclerotic stenosis: risk factors, diagnosis, and treatment. <i>Lancet Neurol<\/i> 2022; 21: 355\u2013368.","DOI":"10.1016\/S1474-4422(21)00376-8"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2) Gorelick PB, Wong KS, Bae HJ, et al. Large artery intracranial occlusive disease: a large worldwide burden but a relatively neglected frontier. <i>Stroke<\/i> 2008; 39: 2396\u20132399.","DOI":"10.1161\/STROKEAHA.107.505776"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3) Mehndiratta MM, Khan M, Mehndiratta P, et al. Stroke in Asia: geographical variations and temporal trends. <i>J Neurol Neurosurg Psychiatry<\/i> 2014; 85: 1308\u20131312.","DOI":"10.1136\/jnnp-2013-306992"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4) Song JY, Kwon SU. 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Moyamoya disease: diagnosis and interventions. <i>Lancet Neurol<\/i> 2022; 21: 747\u2013758.","DOI":"10.1016\/S1474-4422(22)00165-X"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11) Debette S, Compter A, Labeyrie MA, et al. Epidemiology, pathophysiology, diagnosis, and management of intracranial artery dissection. <i>Lancet Neurol<\/i> 2015; 14: 640\u2013654.","DOI":"10.1016\/S1474-4422(15)00009-5"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12) Mizutani T. Natural course of intracranial arterial dissections. <i>J Neurosurg<\/i> 2011; 114: 1037\u20131044.","DOI":"10.3171\/2010.9.JNS10668"},{"key":"13","unstructured":"13) Nagahata M, Abe Y, Ono S, et al. Surface appearance of the vertebrobasilar artery revealed on basiparallel anatomic scanning (BPAS)\u2013MR imaging: its role for brain MR examination. <i>AJNR Am J Neuroradiol<\/i> 2005; 26: 2508\u20132513."},{"key":"14","doi-asserted-by":"crossref","unstructured":"14) Liu J, Zhao L, Yao L, et al. 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Diagnosis and classification of central nervous system vasculitis. <i>J Autoimmun<\/i> 2014; 48\u201349: 149\u2013152.","DOI":"10.1016\/j.jaut.2014.01.007"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18) Obusez EC, Hui F, Hajj-Ali RA, et al. High-resolution MRI vessel wall imaging: spatial and temporal patterns of reversible cerebral vasoconstriction syndrome and central nervous system vasculitis. <i>AJNR Am J Neuroradiol<\/i> 2014; 35: 1527\u20131532.","DOI":"10.3174\/ajnr.A3909"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19) Rice CM, Scolding NJ. The diagnosis of primary central nervous system vasculitis. <i>Pract Neurol<\/i> 2020; 20: 109\u2013114.","DOI":"10.1136\/practneurol-2018-002002"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20) Ducros A. 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Central nervous system complications and management in sickle cell disease. <i>Blood<\/i> 2016; 127: 829\u2013838.","DOI":"10.1182\/blood-2015-09-618579"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25) Fujimura M, Tominaga T, Kuroda S, et al. 2021 Japanese Guidelines for the Management of Moyamoya Disease: guidelines from the Research Committee on Moyamoya Disease and Japan Stroke Society. <i>Neurol Med Chir (Tokyo)<\/i> 2022; 62: 165\u2013170.","DOI":"10.2176\/jns-nmc.2021-0382"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26) Kuroda S, Houkin K. Moyamoya disease: current concepts and future perspectives. <i>Lancet Neurol<\/i> 2008; 7: 1056\u20131066.","DOI":"10.1016\/S1474-4422(08)70240-0"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27) Takagi Y, Kikuta K, Nozaki K, et al. Histological features of middle cerebral arteries from patients treated for moyamoya disease. <i>Neurol Med Chir (Tokyo)<\/i> 2007; 47: 1\u20134.","DOI":"10.2176\/nmc.47.1"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28) Kathuveetil A, Sylaja PN, Senthilvelan S, et al. Vessel wall thickening and enhancement in high-resolution intracranial vessel wall imaging: a predictor of future ischemic events in Moyamoya disease. <i>AJNR Am J Neuroradiol<\/i> 2020; 41: 100\u2013105.","DOI":"10.3174\/ajnr.A6360"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29) Shahabi M, Zareshahi N, Kiani I, et al. High-resolution vessel wall MRI in Moyamoya disease: a systematic review and meta-analysis of diagnostic and prognostic applications. <i>Neuroradiology<\/i>  2025; 67: 299\u2013319.","DOI":"10.1007\/s00234-024-03515-8"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30) Liu W, Morito D, Takashima S, et al. Identification of <i>RNF213<\/i> as a susceptibility gene for moyamoya disease and its possible role in vascular development. <i>PLoS One<\/i> 2011; 6: e22542.","DOI":"10.1371\/journal.pone.0022542"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31) Kamada F, Aoki Y, Narisawa A, et al. A genome-wide association study identifies <i>RNF213<\/i> as the first Moyamoya disease gene. <i>J Hum Genet<\/i> 2011; 56: 34\u201340.","DOI":"10.1038\/jhg.2010.132"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32) Yoshimoto T, Ishiyama H, Hattori Y, et al. Association of thyroid peroxidase antibody with the <i>RNF213<\/i> p.R4810K variant in ischemic stroke\/transient ischemic attack. <i>Atherosclerosis<\/i> 2023; 382: 117281.","DOI":"10.1016\/j.atherosclerosis.2023.117281"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33) Koizumi A, Kobayashi H, Hitomi T, et al. A new horizon of moyamoya disease and associated health risks explored through RNF213. <i>Environ Health Prev Med<\/i> 2016; 21: 55\u201370.","DOI":"10.1007\/s12199-015-0498-7"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34) Koganebuchi K, Sato K, Fujii K, et al. An analysis of the demographic history of the risk allele R4810K in <i>RNF213<\/i> of moyamoya disease. <i>Ann Hum Genet<\/i> 2021; 85: 166\u2013177.","DOI":"10.1111\/ahg.12424"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35) Miyawaki S, Imai H, Takayanagi S, et al. Identification of a genetic variant common to moyamoya disease and intracranial major artery stenosis\/occlusion. <i>Stroke<\/i> 2012; 43: 3371\u20133374.","DOI":"10.1161\/STROKEAHA.112.663864"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36) Kamimura T, Okazaki S, Morimoto T, et al. Prevalence of RNF213 p.R4810K variant in early-onset stroke with intracranial arterial stenosis. <i>Stroke<\/i> 2019; 50: 1561\u20131563.","DOI":"10.1161\/STROKEAHA.118.024712"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37) Okazaki S, Morimoto T, Kamatani Y, et al. Moyamoya disease susceptibility variant RNF213 p.R4810K increases the risk of ischemic stroke attributable to large-artery atherosclerosis. <i>Circulation<\/i> 2019; 139: 295\u2013298.","DOI":"10.1161\/CIRCULATIONAHA.118.038439"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38) Dofuku S, Sonehara K, Miyawaki S, et al. Genome-wide association study of intracranial artery stenosis followed by phenome-wide association study. <i>Transl Stroke Res<\/i> 2023; 14: 322\u2013333.","DOI":"10.1007\/s12975-022-01049-w"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39) Torazawa S, Miyawaki S, Imai H, et al. Association of rare variants in <i>RNF213<\/i> with severe progression of intracranial artery stenosis in quasi\u2013moyamoya disease. <i>J Neurosurg<\/i> 2025; 142: 394\u2013403.","DOI":"10.3171\/2024.6.JNS24202"},{"key":"40","doi-asserted-by":"crossref","unstructured":"40) Zedde M, Grisendi I, Assenza F, et al. RNF213 polymorphisms in intracranial artery dissection. <i>Genes (Basel)<\/i> 2024; 15: 725.","DOI":"10.3390\/genes15060725"},{"key":"41","doi-asserted-by":"crossref","unstructured":"41) Ohara M, Yoshimoto T, Okazaki S, et al. <i>RNF213<\/i> p.R4810K variant carriers with intracranial arterial stenosis have a low atherosclerotic burden. <i>J Atheroscler Thromb<\/i> 2022; 29: 1655\u20131662.","DOI":"10.5551\/jat.63379"},{"key":"42","doi-asserted-by":"crossref","unstructured":"42) Choi EH, Lee H, Chung JW, et al. 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Association of the <i>RNF213<\/i> p.R4810K variant with the outer diameter of cervical arteries in patients with ischemic stroke. <i>Stroke Vasc Interv Neurol<\/i> 2022; 2: e000298.","DOI":"10.1161\/SVIN.121.000298"},{"key":"44","doi-asserted-by":"crossref","unstructured":"44) Eto F, Yoshimoto T, Okazaki S, et al. <i>RNF213<\/i> p.R4810K (c.14429G &gt; A) variant determines anatomical variations of the circle of Willis in cerebrovascular disease. <i>Front Aging Neurosci<\/i> 2021; 13: 681743.","DOI":"10.3389\/fnagi.2021.681743"},{"key":"45","doi-asserted-by":"crossref","unstructured":"45) Okazaki S, Yoshimoto T, Ohara M, et al. Effect of the <i>RNF213<\/i> p.R4810K variant on the progression of intracranial artery stenosis: a 15-year follow-up study. <i>Neurol Genet<\/i> 2022; 8: e200029.","DOI":"10.1212\/NXG.0000000000200029"},{"key":"46","doi-asserted-by":"crossref","unstructured":"46) Chang SA, Song JS, Park TK, et al. Nonsyndromic peripheral pulmonary artery stenosis is associated with homozygosity of <i>RNF213<\/i> p.Arg4810Lys regardless of co-occurrence of Moyamoya disease. <i>Chest<\/i> 2018; 153: 404\u2013413.","DOI":"10.1016\/j.chest.2017.09.023"},{"key":"47","doi-asserted-by":"crossref","unstructured":"47) Bang OY, Chung JW, Kim DH, et al. Moyamoya disease and spectrums of <i>RNF213<\/i> vasculopathy. <i>Transl Stroke Res<\/i> 2020; 11: 580\u2013589.","DOI":"10.1007\/s12975-019-00743-6"},{"key":"48","doi-asserted-by":"crossref","unstructured":"48) Tabara Y, Yamada H, Setoh K, et al. The association between the Moyamoya disease susceptible gene <i>RNF213<\/i> variant and incident cardiovascular disease in a general population: the Nagahama study. <i>J Hypertens<\/i> 2021; 39: 2521\u20132526.","DOI":"10.1097\/HJH.0000000000002964"},{"key":"49","doi-asserted-by":"crossref","unstructured":"49) Hikino K, Koyama S, Ito K, et al. <i>RNF213<\/i> variants, vasospastic angina, and risk of fatal myocardial infarction. <i>JAMA Cardiol<\/i> 2024; 9: 723\u2013731.","DOI":"10.1001\/jamacardio.2024.1483"},{"key":"50","doi-asserted-by":"crossref","unstructured":"50) Hiraide T, Kataoka M, Suzuki H, et al. Poor outcomes in carriers of the <i>RNF213<\/i> variant (p.Arg4810Lys) with pulmonary arterial hypertension. <i>J Heart Lung Transplant<\/i> 2020; 39: 103\u2013112.","DOI":"10.1016\/j.healun.2019.08.022"},{"key":"51","doi-asserted-by":"crossref","unstructured":"51) Sugihara M, Morito D, Ainuki S, et al. The AAA+ ATPase\/ubiquitin ligase mysterin stabilizes cytoplasmic lipid droplets. <i>J Cell Biol<\/i> 2019; 218: 949\u2013960.","DOI":"10.1083\/jcb.201712120"},{"key":"52","doi-asserted-by":"crossref","unstructured":"52) Otten EG, Werner E, Crespillo-Casado A, et al. Ubiquitylation of lipopolysaccharide by RNF213 during bacterial infection. <i>Nature<\/i> 2021; 594: 111\u2013116.","DOI":"10.1038\/s41586-021-03566-4"},{"key":"53","doi-asserted-by":"crossref","unstructured":"53) Bagyinszky E, Yang Y, An SSA. Multisystemic impact of RNF213 Arg4810Lys: a comprehensive review of Moyamoya disease and associated vasculopathies. <i>Int J Mol Sci<\/i> 2025; 26: 7864.","DOI":"10.3390\/ijms26167864"}],"container-title":["Journal of Neuroendovascular Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/jnet\/20\/1\/20_ra.2026-0023\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:24:26Z","timestamp":1777692266000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/jnet\/20\/1\/20_ra.2026-0023\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":53,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.5797\/jnet.ra.2026-0023","relation":{},"ISSN":["1882-4072","2186-2494"],"issn-type":[{"value":"1882-4072","type":"print"},{"value":"2186-2494","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]},"article-number":"ra.2026-0023"}}