{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T09:01:40Z","timestamp":1780736500850,"version":"3.54.1"},"reference-count":52,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9]]},"abstract":"\n OBJECTIVE<\/jats:title>\n \n Quasi-moyamoya disease (QMMD) is moyamoya disease (MMD) associated with additional underlying diseases. Although the ring finger protein 213 (\n RNF213<\/jats:italic>\n ) c.14576G>A mutation is highly correlated with MMD in the Asian population, its relationship to QMMD is unclear. Therefore, in this study the authors sought to investigate the\n RNF213<\/jats:italic>\n c.14576G>A mutation in the genetic diagnosis and classification of QMMD.\n <\/jats:p>\n <\/jats:sec>\n \n METHODS<\/jats:title>\n \n This case-control study was conducted among four core hospitals. A screening system for the\n RNF213<\/jats:italic>\n c.14576G>A mutation based on high-resolution melting curve analysis was designed. The prevalence of\n RNF213<\/jats:italic>\n c.14576G>A was investigated in 76 patients with MMD and 10 patients with QMMD.\n <\/jats:p>\n <\/jats:sec>\n \n RESULTS<\/jats:title>\n \n There were no significant differences in age, sex, family history, and mode of onset between the two groups. Underlying diseases presenting in patients with QMMD were hyperthyroidism (n = 6), neurofibromatosis type 1 (n = 2), Sj\u00f6gren\u2019s syndrome (n = 1), and meningitis (n =1). The\n RNF213<\/jats:italic>\n c.14576G>A mutation was found in 64 patients (84.2%) with MMD and 8 patients (80%) with QMMD; no significant difference in mutation frequency was observed between cohorts.\n <\/jats:p>\n <\/jats:sec>\n \n CONCLUSIONS<\/jats:title>\n \n There are two forms of QMMD, one in which the vascular abnormality is associated with an underlying disease, and the other in which MMD is coincidentally complicated by an unrelated underlying disease. It has been suggested that the presence or absence of the\n RNF213<\/jats:italic>\n c.14576G>A mutation may be useful in distinguishing between these disease types.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3171\/2021.5.focus21182","type":"journal-article","created":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T07:39:43Z","timestamp":1630481983000},"page":"E2","source":"Crossref","is-referenced-by-count":7,"title":["Role of RNF213 polymorphism in defining quasi-moyamoya disease and definitive moyamoya disease"],"prefix":"10.3171","volume":"51","author":[{"given":"Eitaro","family":"Ishisaka","sequence":"first","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Kanazawa University Hospital, Kanazawa, Ishikawa;"},{"name":"Support Center for Genetic Medicine, Kanazawa University Hospital, Kanazawa, Ishikawa;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuo","family":"Murai","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazutaka","family":"Shirokane","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Nippon Medical School, Tama-Nagayama Hospital, Tama, Tokyo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumihiro","family":"Matano","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Tsukiyama","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiichi","family":"Baba","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunsuke","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonori","family":"Tamaki","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Nippon Medical School, Tama-Nagayama Hospital, Tama, Tokyo;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Mizunari","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Chiba Hokuso Hospital, Nippon Medical School, Chiba; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rokuya","family":"Tanikawa","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Teishinkai Hospital, Sapporo, Hokkaido, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akio","family":"Morita","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"issue":"1","key":"b1","series-title":"Surg Cerebral Stroke","doi-asserted-by":"publisher","first-page":"1","DOI":"10.2335\/scs.46.1","article-title":"Recommendations for the management of moyamoya disease: a statement from research committee on spontaneous occlusion of the circle of Willis (moyamoya disease)","volume":"46","author":"Tominaga T","year":"2018","unstructured":"Tominaga T, Suzuki N, Miyamoto S, Koizumi A, Kuroda S, Takahashi JC, Recommendations for the management of moyamoya disease: a statement from research committee on spontaneous occlusion of the circle of Willis (moyamoya disease). 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