{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:06:30Z","timestamp":1790705190609,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T00:00:00Z","timestamp":1763942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T00:00:00Z","timestamp":1763942400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82450114"],"award-info":[{"award-number":["82450114"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82471880"],"award-info":[{"award-number":["82471880"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FOR2488"],"award-info":[{"award-number":["FOR2488"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2026,3]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Repeat expansions have been reported as genetic causes\/risk factors of Parkinson's disease (PD). As a novel repeat expansion locus, the FGF14\u2010SCA27B (GAA)\u2022(TTC) repeat locus is unexplored in PD.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Utilizing genetic sequencing and various polymerase chain reaction (PCR) methodologies, pure and complex repeat expansions in\n FGF14<\/jats:italic>\n were detected in Asian PD patients. Targeted long\u2014read sequencing was performed to investigate the detailed sequence composition of these repeat expansions. Case\u2013control studies were further performed.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Pure (TTC)\n \u2265250<\/jats:sub>\n repeat expansion was detected in 2 of 1190 PD patients (0.17%). Additionally, a more common and complex (TTC)\/(TGC)\n \u2265300<\/jats:sub>\n repeat expansion was detected as the main expanded genotype in our discovery cluster. Using targeted long\u2010read sequencing, these complex (TTC)\/(TGC) repeat expansions were characterized as (TTC)exp(TGCTTC)exp(TGCTTCTTCTTCTTC)n(TTC)n alleles with four segments (Seg 1\u20134), and further classified into four genotypic patterns. Pattern 1 was mainly characterized by a (CTC) interruption in the Seg 1\u2010(TTC)exp. Patterns 2\u20134 were characterized by different repeat length of Seg 1\u2010(TTC)exp and Seg 3\u2010(TGCTTCTTCTTCTTC)n. Case\u2013control analysis revealed a significant enrichment of Pattern 4 (TTC)\/(TGC) repeat expansion in PD compared with controls (\n P<\/jats:italic>\n \u2009=\u20090.024, OR: 2.60, 95% CI: 1.07\u20137.23) in the discovery cluster. This significant association between Pattern 4 (TTC)\/(TGC) repeat expansion and PD was confirmed in one of two replication clusters (\n P<\/jats:italic>\n \u2009=\u20090.035, OR: 2.18, 95% CI: 0.95\u20134.53) and the meta\u2010analysis across all three clusters (\n P<\/jats:italic>\n \u2009=\u20090.015, OR: 1.75, 95% CI: 1.10\u20132.79).\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation<\/jats:title>\n \n We identified a unique complex (TTC)\/(TGC) repeat expansion in\n FGF14<\/jats:italic>\n as a novel genetic risk factor of PD in the Asian population. \u00a9 2025 International Parkinson and Movement Disorder Society.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mds.70128","type":"journal-article","created":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T10:46:42Z","timestamp":1763981202000},"page":"667-678","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Complex\n \n FGF14<\/i>\n <\/scp>\n (\n TTC<\/scp>\n )\/(\n TGC<\/scp>\n ) Repeat Expansion in Parkinson's Disease"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6486-5079","authenticated-orcid":false,"given":"Xiaosheng","family":"Zheng","sequence":"first","affiliation":[{"name":"Department of Neurology the Second Affiliated Hospital, Zhejiang University School of Medicine Zhejiang China"},{"name":"Liangzhu Laboratory, Zhejiang University School of Medicine Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3155-5781","authenticated-orcid":false,"given":"Zhidong","family":"Cen","sequence":"additional","affiliation":[{"name":"Department of Neurology the Second Affiliated Hospital, Zhejiang University School of Medicine Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9940-9327","authenticated-orcid":false,"given":"Xinhui","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology the Second Affiliated Hospital, Zhejiang University School of Medicine Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology the Second Affiliated Hospital, Zhejiang University School of Medicine Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenxin","family":"Ying","sequence":"additional","affiliation":[{"name":"Department of Neurology the Second Affiliated Hospital, Zhejiang University School of Medicine Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Neurology the Second Affiliated Hospital, Zhejiang University School of Medicine Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8824-3370","authenticated-orcid":false,"given":"Peng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology the Second Affiliated Hospital, Zhejiang University School of Medicine Zhejiang China"},{"name":"Department of Neurology Taizhou Central Hospital, Taizhou University Hospital Taizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yilin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology the Second Affiliated Hospital, Zhejiang University School of Medicine Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7677-8930","authenticated-orcid":false,"given":"Haotian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology the Second Affiliated Hospital, Zhejiang University School of Medicine Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaxiang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology the Second Affiliated Hospital, Zhejiang University School of Medicine Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Trinh","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of Luebeck Luebeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2422-8486","authenticated-orcid":false,"given":"Joshua","family":"La\u00df","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of Luebeck Luebeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Pellerin","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Hospital and Institute, McGill University Montreal Quebec Canada"},{"name":"Dr. John T. 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