{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T19:23:28Z","timestamp":1785439408363,"version":"3.56.0"},"reference-count":24,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T00:00:00Z","timestamp":1692316800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82101487"],"award-info":[{"award-number":["82101487"]}],"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":["82171245"],"award-info":[{"award-number":["82171245"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","award":["ZR2021QH161"],"award-info":[{"award-number":["ZR2021QH161"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010029","name":"Taishan Scholar Foundation of Shandong Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010029","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Alpha\u2010synuclein (<jats:italic>SNCA<\/jats:italic>) copy number variations (CNV) have been certified as a causative mutation in patients with familial and sporadic Parkinson's disease (PD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>We report three <jats:italic>SNCA<\/jats:italic> duplication cases diagnosed as PD. Through whole\u2010exome sequencing, we identified a de novo 4.56\u2009Mb repeated region in one patient and a 2.50\u2009Mb repeated region in familial PD with two patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Literature review<\/jats:title><jats:p>In review of previous cases, we suggest that aggressive behavior is more remarkable in CNV4 patients. Meanwhile, frequency of cognition decline and dementia were slightly increased in CNV4 patients. We also illustrate a younger onset age in offspring than parent in familial <jats:italic>SNCA<\/jats:italic> multiplication PD cases. No difference was observed in disease duration between parent and offspring generation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings demonstrated the clinical and genetic characteristics in PD with <jats:italic>SNCA<\/jats:italic> multiplication and provided strong evidence for genetic anticipation. These results may be instructive for future disease diagnosis and genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13852","type":"journal-article","created":{"date-parts":[[2023,7,29]],"date-time":"2023-07-29T03:49:21Z","timestamp":1690602561000},"page":"1536-1541","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Characterization of <scp><i>SNCA<\/i><\/scp> Multiplication in Parkinson's Disease: 2 New Cases and Evaluation of the Literature"],"prefix":"10.1002","volume":"10","author":[{"given":"Ruo\u2010Nan","family":"Duan","sequence":"first","affiliation":[{"name":"Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gui\u2010Yu","family":"Liu","sequence":"additional","affiliation":[{"name":"Cheeloo College of Medicine, Shandong University  Jinan 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