{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:45:11Z","timestamp":1791945911462,"version":"4.3.4"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T00:00:00Z","timestamp":1771718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T00:00:00Z","timestamp":1771718400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100022963","name":"Key Research and Development Program of Zhejiang Province","doi-asserted-by":"publisher","award":["2024C03100"],"award-info":[{"award-number":["2024C03100"]}],"id":[{"id":"10.13039\/100022963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100022963","name":"Key Research and Development Program of Zhejiang Province","doi-asserted-by":"publisher","award":["2025C01120"],"award-info":[{"award-number":["2025C01120"]}],"id":[{"id":"10.13039\/100022963","id-type":"DOI","asserted-by":"publisher"}]},{"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"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Perry disease is a rare autosomal dominant inherited neurodegenerative disorder caused by cytoskeleton\u2010associated protein glycine\u2010rich (CAP\u2010Gly)\u00a0domain\u2010related variants in the\n                      <jats:italic>DCTN1<\/jats:italic>\n                      gene, with characteristic TDP\u201043 pathology. The typical manifestations are parkinsonism, psychiatric symptoms, weight loss, and central hypoventilation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The aim of the study was to delineate the genotypic and phenotypic spectrum of Perry disease in a Chinese parkinsonism cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We screened the\n                      <jats:italic>DCTN1<\/jats:italic>\n                      CAP\u2010Gly domain\u2010related variants in 932 Chinese parkinsonism patients using next\u2010generation sequencing, and functional studies of the identified variants were conducted.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Three variants were detected (two novel: p.Arg32Cys, p.Gly67Ser; one reported: p.Gly71Arg), indicating a rate of 0.32% (3\/932). Clinical presentations mimicked progressive supranuclear palsy or early\u2010onset Parkinson's disease. Functional studies supported pathogenicity, revealing impaired localization of\n                      <jats:italic>DCTN1<\/jats:italic>\n                      \u2010encoded p150\n                      <jats:sup>Glued<\/jats:sup>\n                      protein, TDP\u201043 pathology, and altered lysosomal positioning.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our study broadens the genetic and phenotypic spectrum of Perry disease. These findings support consideration of\n                      <jats:italic>DCTN1<\/jats:italic>\n                      CAP\u2010Gly domain\u2010related variants in patients with parkinsonism to facilitate early recognition and management. \u00a9 2026 International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.70244","type":"journal-article","created":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T01:59:16Z","timestamp":1771811956000},"page":"1593-1599","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Variants in\n                    <scp>\n                      <i>DCTN1<\/i>\n                    <\/scp>\n                    Associated with Perry Disease: A Case Series from a Chinese Parkinsonism Cohort"],"prefix":"10.1002","volume":"41","author":[{"given":"Yiying","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neurology, The Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiling","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1131-6823","authenticated-orcid":false,"given":"Yixin","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou 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  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaxiang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of General Practice and International Medicine, The Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaosheng","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou 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