{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:44:36Z","timestamp":1761007476426,"version":"build-2065373602"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T00:00:00Z","timestamp":1632787200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked dystonia parkinsonism (XDP) or \u201cLubag\u201d is a genetic dystonia syndrome observed among Filipinos that can present with levodopa\u2010responsive parkinsonism and abnormal dopamine transporter (DAT) imaging.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study is to describe the results of skin biopsies for phosphorylated \u03b1\u2010synuclein (P\u2010SYN) in XDP.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This study used the retrospective chart review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report 6 patients who carried the XDP gene mutation with DAT imaging and skin biopsies to detect P\u2010SYN. Five had segmental or multifocal dystonia and parkinsonism: 4 were levodopa\u2010responsive and 1 non\u2010levodopa\u2010responsive. One patient was asymptomatic but had mild bradykinesia. Cutaneous P\u2010SYN and abnormal DAT scans were noted in the 4 levodopa\u2010responsive patients and 1 asymptomatic patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report for the first time the presence of cutaneous P\u2010SYN in XDP. Our findings suggest that XDP may be a hitherto\u2010undescribed synucleinopathy or that some XDP patients may have concurrent Parkinson's disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28801","type":"journal-article","created":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T09:40:09Z","timestamp":1632822009000},"page":"130-136","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["X\u2010Linked Dystonia\u2010Parkinsonism (\u201cLubag\u201d) May Present with Peripheral Synucleinopathy"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6341-6933","authenticated-orcid":false,"given":"Virgilio Gerald H.","family":"Evidente","sequence":"first","affiliation":[{"name":"Movement Disorders Center of Arizona  Scottsdale Arizona USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danica H.","family":"Evidente","sequence":"additional","affiliation":[{"name":"Movement 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