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It is associated with the founder susceptibility variant p.R4810K in the <jats:italic>RNF213<\/jats:italic> gene in East Asia. Our aim was to enhance understanding of MMD in so far poorly characterized Southeast Asians and exploring differences with Caucasian Europeans.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>By retrospective analysis of medical records and systematic database search on PubMed for all published cases, we identified Southeast Asian patients with MMD. We extracted and pooled proportions using fixed-effects models. Our own cohort was tested for the East Asian <jats:italic>RNF213<\/jats:italic> founder variant p.R4810K. One of our Southeast Asian patients underwent post-mortem histopathological examination.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The study cohort comprised 32 Southeast Asians. Mean age at onset in the entire cohort was 32.5\u2009\u00b1\u200920.3\u00a0years (<jats:italic>n<\/jats:italic>\u2009=\u200924), 43.4\u2009\u00b1\u20098.7\u00a0years in patients admitted to our center (<jats:italic>n<\/jats:italic>\u2009=\u200911), and 23.4\u2009\u00b1\u200922.4\u00a0years in patients from the international literature (<jats:italic>n<\/jats:italic>\u2009=\u200913). Female-to-male ratio was 1.6:1. MMD predominantly affected bilateral anterior intracranial vessels. Cerebral ischemia outnumbered transient ischemic attacks (TIAs) and intracranial hemorrhage. TIAs, arterial hypertension and obesity were significantly less frequent in Southeast Asian patients compared to Caucasian Europeans. p.R4810K was absent in all examined Southeast Asians despite of typical histopathological signs of MMD in one autopsy case.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Clinical and histopathological manifestations of MMD in Southeast Asians are similar to those in Caucasian Europeans. The genotype of MMD in Southeast Asians differs from that of most East Asian patients.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-024-12228-0","type":"journal-article","created":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T16:56:35Z","timestamp":1710348995000},"page":"3328-3339","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Moyamoya disease in Southeast Asians: genetic and autopsy data, new cases, systematic review, and meta-analysis of all patients from the literature"],"prefix":"10.1007","volume":"271","author":[{"given":"Daniel","family":"Strunk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Keyvani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolf R.","family":"Diehl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland","family":"Veltkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Berlit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven G.","family":"Meuth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Timmermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Claudius","family":"Schwitalla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5667-3621","authenticated-orcid":false,"given":"Markus","family":"Kraemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,13]]},"reference":[{"key":"12228_CR1","doi-asserted-by":"publisher","first-page":"245","DOI":"10.2176\/nmc.52.245","volume":"52","author":"Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis, Health Labour Sciences Research Grant for Research on Measures for Infractable Diseases","year":"2012","unstructured":"Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis, Health Labour Sciences Research Grant for Research on Measures for Infractable Diseases (2012) Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis). 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Peter Bauer: is chief medical and genomic officer at Centigene AG Rostock. Kathy Keyvani: There is no conflict of interest. Rolf R. Diehl: There is no conflict of interest. Roland Veltkamp: RV is an investigator of the NIHR Imperial Biomedical Research Centre and reports fees for consulting and speaker honoraria from AstraZeneca, Bayer, Boehringer Ingelheim, Bristol Myers Squibb, Pfizer, Daichi Sankyo, Portola, Biogen, Medtronic, and Morphosys; and research grants from Bayer, Boehringer, Bristol Myers Squibb. Peter Berlit: There is no conflict of interest. Sven G. Meuth: There is no conflict of interest. Lars Timmermann: LT reports grants, personal fees, and non-financial support from SAPIENS Steering Brain Stimulation, Medtronic, Boston Scientific, and St. Jude Medical, and has received payments from Bayer Healthcare, UCB Schwarz Pharma, and Archimedes Pharma and also honoraria as a speaker on symposia sponsored by Teva Pharma, Lundbeck Pharma, Bracco, Gianni PR, Medas Pharma, UCB Schwarz Pharma, Desitin Pharma, Boehringer Ingelheim, GSK, Eumecom, Orion Pharma, Medtronic, Boston Scientific, Cephalon, Abbott, GE Medical, Archimedes, and Bayer. Jan Claudius Schwitalla: JCS is a full-time employee of Astra Zenica, but this article was written as part of his voluntary work on the board of the German Moyamoya Association. Markus Kraemer: MK received honoraria for lecture activities from Roche Pharma and Chugai without any connection to the topic of the article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}