{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T06:38:08Z","timestamp":1765521488011,"version":"3.48.0"},"reference-count":39,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T00:00:00Z","timestamp":1757808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100014188","name":"Ministry of Science and ICT, South Korea","doi-asserted-by":"publisher","award":["RS\u20102024\u201000349023"],"award-info":[{"award-number":["RS\u20102024\u201000349023"]}],"id":[{"id":"10.13039\/501100014188","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014188","name":"Ministry of Science and ICT, South Korea","doi-asserted-by":"publisher","award":["RS\u20102024\u201000361688"],"award-info":[{"award-number":["RS\u20102024\u201000361688"]}],"id":[{"id":"10.13039\/501100014188","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2025,12]]},"abstract":"ABSTRACT<\/jats:title>\n \n Objectives<\/jats:title>\n \n Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by the progressive narrowing of arteries at the base of the brain, forming abnormal collateral vascular networks. While vascular parkinsonism is noted in MMD, its link to Parkinson's disease (PD) has not been explored. We aimed to determine whether the risk of PD is increased in patients with MMD and to identify the potential role of the\n RNF213<\/jats:italic>\n gene.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We report two cases of PD with a history of MMD associated with the Arg4810Lys variant of\n RNF213<\/jats:italic>\n . Using the Korean National Health Insurance Service database, we studied the association between MMD and subsequent PD risk using Cox proportional hazards regression analysis. Moreover, we explored the interaction between \u03b1\u2010synuclein and RNF213 proteins by overexpressing\n SNCA<\/jats:italic>\n and\n RNF213<\/jats:italic>\n in SH\u2010SY5Y cells. Furthermore, we confirmed the proximity of Lewy pathology and RNF213 proteins in postmortem brain tissues from three patients with PD and age\u2010matched controls.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Among 16,830 patients aged \u2265\u200940 with MMD, 3415 were enrolled, excluding those with prior PD or stroke, along with a matched control group of 33,974. The analysis revealed an increased PD risk in patients with MMD (hazard ratio\u2009=\u20094.45 [3.40\u20135.82],\n p<\/jats:italic>\n \u2009<\u20090.0001). Overexpression of\n RNF213<\/jats:italic>\n resulted in cytoplasmic inclusions, which were worsened by the co\u2010expression of\n SNCA<\/jats:italic>\n and the Arg4810Lys variant of RNF213. Histological studies confirmed the co\u2010localization of \u03b1\u2010synuclein aggregates and RNF213 proteins in PD brain tissues.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation<\/jats:title>\n This study confirms the heightened PD risk in patients with MMD and suggests a pathophysiological link through \u03b1\u2010synuclein and RNF213 interactions.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/acn3.70191","type":"journal-article","created":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T04:15:48Z","timestamp":1757909748000},"page":"2523-2534","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Moyamoya Disease and the Risk of Parkinson's Disease"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9736-6118","authenticated-orcid":false,"given":"Dallah","family":"Yoo","sequence":"first","affiliation":[{"name":"Department of Neurology Kyung Hee University Hospital, Kyung Hee University College of Medicine Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeong\u2010Yong","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Sungkyunkwan University School of Medicine Samsung Biomedical Research Institute (SBRI) Suwon Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rugyeom","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine Kyung Hee University College of Medicine Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiwon","family":"Cheon","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Sungkyunkwan University School of Medicine Samsung Biomedical Research Institute (SBRI) Suwon Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji Hun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Sungkyunkwan University School of Medicine Samsung Biomedical Research Institute (SBRI) Suwon Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doeun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Sungkyunkwan University School of Medicine Samsung Biomedical Research Institute (SBRI) Suwon Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jae\u2010Kyung","family":"Won","sequence":"additional","affiliation":[{"name":"Department of Pathology Seoul National University College of Medicine, Seoul National University Hospital Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In\u2010Hwan","family":"Oh","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine Kyung Hee University College of Medicine Seoul Republic of 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