{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T17:09:47Z","timestamp":1789664987650,"version":"4.0.1"},"reference-count":25,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"15","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2022,8,2]]},"abstract":"<jats:sec sec-type=\"background\" xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">Early\u2010stage unilateral moyamoya disease (MMD) is difficult to discriminate from isolated intracranial atherosclerotic stenosis, and identification of contralateral progression may aid in the diagnosis of MMD. The RNF213 (ring finger protein 213) R4810K variant is a strong genetic susceptibility factor for MMD; however, the role of contralateral progression in unilateral MMD is unknown.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Patients who had undergone\n              <jats:italic>RNF213<\/jats:italic>\n              R4810K genotyping with suspected unilateral MMD between January 2017 and August 2021 from 2 tertiary university hospitals were retrospectively reviewed. We compared the clinical features and radiographic outcomes of patients with and without this variant. The risk factors of contralateral progression in patients with suspected unilateral MMD were evaluated. The\n              <jats:italic>RNF213<\/jats:italic>\n              R4810K variant was observed in 72 of 123 patients with suspected unilateral MMD, all of which were heterozygous. The allele frequency of the R4810K variant was significantly higher in the suspected unilateral MMD group compared with the historical control group (29.3% versus 1.2%;\n              <jats:italic>P<\/jats:italic>\n              &lt;0.0001). Family history of MMD was significantly more common in patients with the variant than in those without (17% versus 4%;\n              <jats:italic>P<\/jats:italic>\n              =0.003). Eleven of 72 patients with the variant developed contralateral progression, whereas only 1 of 51 patients without the variant developed contralateral progression during a median follow\u2010up period of 28\u2009months (log\u2010rank test;\n              <jats:italic>P<\/jats:italic>\n              =0.03). The presence of the\n              <jats:italic>RNF213<\/jats:italic>\n              R4810K variant significantly correlated with contralateral progression (adjusted odds ratio, 6.39 [95% CI, 1.11\u201336.63];\n              <jats:italic>P<\/jats:italic>\n              =0.04).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Contralateral progression is more likely to occur in patients with suspected unilateral MMD with the\n              <jats:italic>RNF213<\/jats:italic>\n              R4810K variant than in those without the variant. However, because our study used a small sample size, this finding should be carefully interpreted and requires further studies with more patients and longer follow\u2010up periods.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.122.025676","type":"journal-article","created":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T12:09:51Z","timestamp":1658750991000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":16,"title":["<i>RNF213<\/i>\n            R4810K Variant in Suspected Unilateral Moyamoya Disease Predicts Contralateral Progression"],"prefix":"10.1161","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2901-5778","authenticated-orcid":false,"given":"Taedong","family":"Ok","sequence":"first","affiliation":[{"name":"Department of Neurology, Gangnam Severance Hospital Yonsei University College of Medicine Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3048-4718","authenticated-orcid":false,"given":"Yo Han","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Neurology, Gangnam Severance Hospital Yonsei University College of Medicine Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0156-9736","authenticated-orcid":false,"given":"Jinkwon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Yongin Severance Hospital Yonsei University College of Medicine Yongin South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9231-0716","authenticated-orcid":false,"given":"Sang Kyu","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Gangnam Severance Hospital Yonsei University College of Medicine Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6670-5500","authenticated-orcid":false,"given":"Goeun","family":"Park","sequence":"additional","affiliation":[{"name":"Biostatistics Collaboration Unit Yonsei University College of Medicine Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2473-3693","authenticated-orcid":false,"given":"Sujee","family":"Lee","sequence":"additional","affiliation":[{"name":"Biostatistics Collaboration Unit Yonsei University College of Medicine Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5585-7739","authenticated-orcid":false,"given":"Kyung\u2010Yul","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology, Gangnam Severance Hospital Yonsei University College of Medicine Seoul South 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