{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T13:40:00Z","timestamp":1788010800798,"version":"build-2784847793"},"reference-count":117,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T00:00:00Z","timestamp":1748476800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the CAMS Innovation Fund for Medical Sciences","award":["CIFMS #2021-I2M-1-025"],"award-info":[{"award-number":["CIFMS #2021-I2M-1-025"]}]},{"name":"the CAMS Innovation Fund for Medical Sciences","award":["2022-PUMCH-D-007"],"award-info":[{"award-number":["2022-PUMCH-D-007"]}]},{"name":"the National High Level Hospital Clinical Research Funding","award":["CIFMS #2021-I2M-1-025"],"award-info":[{"award-number":["CIFMS #2021-I2M-1-025"]}]},{"name":"the National High Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-007"],"award-info":[{"award-number":["2022-PUMCH-D-007"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Moyamoya disease (MMD) is a rare yet clinically significant cerebrovascular disorder characterized by progressive stenosis of the distal internal carotid artery and\/or its principal branches, accompanied by the development of characteristic collateral vessel networks. This disease demonstrates a complex multifactorial etiology with strong genetic determinants, as evidenced by its distinct geographical distribution patterns and familial clustering. Recent genetic researches have identified multiple pathogenic mutations contributing to MMD development through three principal mechanisms: progressive vascular stenosis, abnormal angiogenesis, and dysregulated inflammatory responses. Furthermore, moyamoya syndrome frequently occurs as a secondary vascular complication in various monogenic disorders. This review provides a comprehensive analysis of recent genetic advances in MMD in view of diverse pathogenic pathways, offering valuable perspectives on the molecular mechanisms underlying disease development and potential therapeutic targets.<\/jats:p>","DOI":"10.3390\/ijms26115241","type":"journal-article","created":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T06:14:27Z","timestamp":1748585667000},"page":"5241","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Recent Advances in Genetics of Moyamoya Disease: Insights into the Different Pathogenic Pathways"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1794-4358","authenticated-orcid":false,"given":"Guangsong","family":"Han","sequence":"first","affiliation":[{"name":"Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Ni","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S1474-4422(22)00165-X","article-title":"Moyamoya disease: Diagnosis and interventions","volume":"21","author":"Ihara","year":"2022","journal-title":"Lancet Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e70054","DOI":"10.1002\/mco2.70054","article-title":"Advances in moyamoya disease: Pathogenesis, diagnosis, and therapeutic interventions","volume":"6","author":"He","year":"2025","journal-title":"MedComm"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1056\/NEJMra0804622","article-title":"Moyamoya disease and moyamoya syndrome","volume":"360","author":"Scott","year":"2009","journal-title":"N. 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