{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T00:35:51Z","timestamp":1793406951627,"version":"4.5.0"},"reference-count":11,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T00:00:00Z","timestamp":1744761600000},"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 Disord Clin Pract"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dentatorubral\u2013pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder and exhibits diverse clinical phenotypes depending on the age at disease onset. Motor and swallowing functions gradually deteriorate as the disease progresses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study aimed to evaluate natural history and progression of DRPLA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively analyzed patients with DRPLA (n\u2009=\u200922; juvenile\u2010onset: 9, adult\u2010onset: 13), investigating their age at disease onset and the associated clinical features. We determined the age at the beginning of gait disturbance, wheelchair requirement, and bedridden state as motor milestones, in addition to the age at the initiation of enteral nutrition.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The mean ages at disease onset were 12.4 and 36.7\u2009years in juvenile\u2010 and adult\u2010onset groups, respectively. Overall, epilepsy and myoclonus were observed more frequently in the juvenile\u2010onset than in the adult\u2010onset group, whereas choreoathetosis and psychiatric symptoms exhibited the opposite trend. Ataxia and cognitive impairment were observed in all patients. Additionally, median intervals from the onset of gait disturbance to wheelchair requirement and to bedridden state were 3.0 and 9.0\u2009years in juvenile\u2010onset group compared to 7.0 and 12.0\u2009years in the adult\u2010onset group. Enteral nutrition was administered to 17 patients (77.3%) and the age of initiation almost coincided with the age at which patients became bedridden.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our analysis showed that the duration from wheelchair requirement to becoming bedridden was approximately 5\u2009years in these two groups despite their different phenotypes, with several factors likely contributing to this outcome. Our findings help predict disease progression for patients and their families.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.70088","type":"journal-article","created":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T07:25:28Z","timestamp":1744788328000},"page":"1097-1104","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Natural History and Progression of Dentatorubral\u2013Pallidoluysian Atrophy (<scp>DRPLA<\/scp>): A Retrospective Study of 22 Patients"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0488-6264","authenticated-orcid":false,"given":"Hiroshi","family":"Adachi","sequence":"first","affiliation":[{"name":"Department of Neurology National Hospital Organization Hyogo Chuo National Hospital  Sanda Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4978-5382","authenticated-orcid":false,"given":"Katsuya","family":"Nishida","sequence":"additional","affiliation":[{"name":"Department of Neurology National Hospital Organization Hyogo Chuo National Hospital  Sanda Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naonobu","family":"Futamura","sequence":"additional","affiliation":[{"name":"Department of Neurology National Hospital Organization Hyogo Chuo National Hospital  Sanda Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-10218-6"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-51892-7.00041-3"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.6.1605"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2010.01120.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2252"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370610"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.45.1.143"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.7916\/D81N9HST"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201575"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2012.244"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23167"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70088","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:59:38Z","timestamp":1760968778000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70088"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,16]]},"references-count":11,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1002\/mdc3.70088"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.70088","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,16]]},"assertion":[{"value":"2024-10-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}