{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T08:10:08Z","timestamp":1761466208749,"version":"build-2065373602"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"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":[[2025,10]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n DYT\u2010PRKRA is a rare, autosomal recessive movement disorder caused by mutations in the\n PRKRA<\/jats:italic>\n gene. While\n PRKRA<\/jats:italic>\n mutations are recognized in DYT\u2010PRKRA, a significant number of identified variants are still classified as \u201cvariant of uncertain significance\u201d (VUS).\n <\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n In this study we identified a causative variant previously reported as a VUS.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n A 4.5\u2010year\u2010old female born to consanguineous, healthy parents presented with progressive neurodevelopmental regression, similar to two affected relatives. Whole\u2010exome sequencing was performed, and segregation analysis was conducted across two generations.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A homozygous\n PRKRA<\/jats:italic>\n c.74A>G (p.Lys25Arg) variant co\u2010segregated with the DYT\u2010PRKRA phenotype. Unaffected family members were identified as heterozygous carriers.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n This is the first report of DYT\u2010PRKRA in the Iranian population. Strong evidence from familial segregation and in silico analyses support the reclassification of this variant to likely pathogenic. This reclassification has significant implications for the diagnosis and genetic counseling of families affected by DYT\u2010PRKRA. \u00a9 2025 International Parkinson and Movement Disorder Society.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mds.30323","type":"journal-article","created":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T02:49:33Z","timestamp":1754102973000},"page":"2257-2261","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Homozygous c.\n 74A<\/scp>\n >G Variant in\n \n PRKRA<\/i>\n <\/scp>\n Causes\n DYT<\/scp>\n \u2010\n PRKRA<\/scp>\n : Extensive Familial Segregation and a Variant of Uncertain Significance\n (VUS)<\/scp>\n Reclassification"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8694-1949","authenticated-orcid":false,"given":"Fatemeh","family":"Soleymani","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences Tarbiat Modares University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0627-9332","authenticated-orcid":false,"given":"Fahimeh","family":"Piryaei","sequence":"additional","affiliation":[{"name":"Research Center for Molecular Medicine, Institute of Cancer Hamadan University of Medical Sciences Hamadan Iran"},{"name":"Department of Medical Genetics, School of Medicine Hamadan University of Medical Sciences Hamadan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1988-8102","authenticated-orcid":false,"given":"Arezoo","family":"Farhadi","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine, School of Medicine Zanjan University of Medical Sciences Zanjan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5685-2753","authenticated-orcid":false,"given":"Elham","family":"Pourbakhtyaran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Pediatrics Center of Excellence, Children's Medical Center Tehran University of Medical Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6429-0295","authenticated-orcid":false,"given":"Javad","family":"Behroozi","sequence":"additional","affiliation":[{"name":"Cancer Epidemiology Research Center Aja University of Medical Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_10_2_1","DOI":"10.1002\/mds.25475"},{"doi-asserted-by":"publisher","key":"e_1_2_10_3_1","DOI":"10.1007\/s00702-021-02314-2"},{"doi-asserted-by":"publisher","key":"e_1_2_10_4_1","DOI":"10.1007\/s11910-021-01095-1"},{"doi-asserted-by":"publisher","key":"e_1_2_10_5_1","DOI":"10.1016\/S1474-4422(08)70022-X"},{"doi-asserted-by":"publisher","key":"e_1_2_10_6_1","DOI":"10.1093\/emboj\/17.15.4379"},{"doi-asserted-by":"publisher","key":"e_1_2_10_7_1","DOI":"10.1074\/jbc.M004762200"},{"doi-asserted-by":"publisher","key":"e_1_2_10_8_1","DOI":"10.1242\/dmm.050929"},{"doi-asserted-by":"publisher","key":"e_1_2_10_9_1","DOI":"10.1074\/jbc.M115.669408"},{"doi-asserted-by":"publisher","key":"e_1_2_10_10_1","DOI":"10.1016\/j.nbd.2010.11.015"},{"doi-asserted-by":"publisher","key":"e_1_2_10_11_1","DOI":"10.1002\/mds.25703"},{"doi-asserted-by":"publisher","key":"e_1_2_10_12_1","DOI":"10.1002\/mds.25981"},{"doi-asserted-by":"publisher","key":"e_1_2_10_13_1","DOI":"10.1002\/mds.26583"},{"doi-asserted-by":"publisher","key":"e_1_2_10_14_1","DOI":"10.1136\/jmg-2023-109488"},{"doi-asserted-by":"publisher","key":"e_1_2_10_15_1","DOI":"10.1038\/gim.2015.30"},{"doi-asserted-by":"publisher","key":"e_1_2_10_16_1","DOI":"10.1038\/s41586-021-03819-2"},{"doi-asserted-by":"publisher","key":"e_1_2_10_17_1","DOI":"10.1093\/nar\/gkad1011"},{"doi-asserted-by":"publisher","key":"e_1_2_10_18_1","DOI":"10.1002\/pro.4582"},{"doi-asserted-by":"publisher","key":"e_1_2_10_19_1","DOI":"10.1371\/journal.pone.0040410"},{"doi-asserted-by":"publisher","key":"e_1_2_10_20_1","DOI":"10.1016\/j.ydbio.2015.07.023"},{"doi-asserted-by":"publisher","key":"e_1_2_10_21_1","DOI":"10.3389\/dyst.2025.14224"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.30323","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T08:03:53Z","timestamp":1761465833000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.30323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":20,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1002\/mds.30323"],"URL":"https:\/\/doi.org\/10.1002\/mds.30323","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"2025-05-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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