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In this review, we provide insights into the pathogenesis, diagnosis, and therapeutic interventions in MMD. The development of high\u2010throughput sequencing technology has expanded our understanding of genetic susceptibility, identifying MMD\u2010related genes beyond RNF213, such as ACTA2, DIAPH1, HLA, and others. The genetic susceptibility of MMD to its pathological mechanism was summarized and discussed. Based on the second\u2010hit theory, the influences of inflammation, immunity, and environmental factors on MMD were also appropriately summarized. Despite these advancements, revascularization surgery remains the primary treatment for MMD largely because of the lack of effective in vivo and in vitro models. In this study, 16 imaging diagnostic methods for MMD were summarized. Regarding therapeutic intervention, the influences of drugs, endovascular procedures, and revascularization surgeries on patients with MMD were discussed. Future research on the central MMD vascular abnormalities and peripheral circulating factors will provide a more comprehensive understanding of the pathogenic mechanisms of MMD.<\/jats:p>","DOI":"10.1002\/mco2.70054","type":"journal-article","created":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T06:51:24Z","timestamp":1736923884000},"source":"Crossref","is-referenced-by-count":36,"title":["Advances in moyamoya disease: pathogenesis, diagnosis, and therapeutic interventions"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2522-8656","authenticated-orcid":false,"given":"Shihao","family":"He","sequence":"first","affiliation":[{"name":"Department of Neurosurgery Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences  Beijing China"},{"name":"Department of Neurosurgery Stanford University School of Medicine  Stanford California 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