{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T14:10:08Z","timestamp":1759068608308,"version":"3.44.0"},"reference-count":22,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LQ19H090011"],"award-info":[{"award-number":["LQ19H090011"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007194","name":"Wenzhou Municipal Science and Technology Bureau","doi-asserted-by":"publisher","award":["Y20180134"],"award-info":[{"award-number":["Y20180134"]}],"id":[{"id":"10.13039\/501100007194","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Behavioural Brain Research"],"published-print":{"date-parts":[[2023,3]]},"DOI":"10.1016\/j.bbr.2023.114284","type":"journal-article","created":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T11:20:25Z","timestamp":1672744825000},"page":"114284","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["A Chinese pedigree with Perry disease caused by the p.Y78H mutation in DCTN1: A 6-year clinical follow-up"],"prefix":"10.1016","volume":"441","author":[{"given":"Xingyuan","family":"Pan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Hong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xucong","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengzheng","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luxi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weian","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0811-0784","authenticated-orcid":false,"given":"Sipei","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.bbr.2023.114284_bib1","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1001\/archneur.1975.00490440058009","article-title":"Hereditary mental depression and Parkinsonism with taurine deficiency","volume":"32","author":"Perry","year":"1975","journal-title":"Arch. Neurol."},{"issue":"5","key":"10.1016\/j.bbr.2023.114284_bib2","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1136\/jnnp-2017-316864","article-title":"Establishing diagnostic criteria for Perry syndrome","volume":"89","author":"Mishima","year":"2018","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"2","key":"10.1016\/j.bbr.2023.114284_bib3","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1001\/jamaneurol.2013.5100","article-title":"DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes","volume":"71","author":"Caroppo","year":"2014","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.bbr.2023.114284_bib4","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.parkreldis.2016.04.025","article-title":"DCTN1 p.K56R in progressive supranuclear palsy","volume":"28","author":"Gustavsson","year":"2016","journal-title":"Park. Relat. Disord."},{"issue":"2","key":"10.1016\/j.bbr.2023.114284_bib5","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/ng.293","article-title":"DCTN1 mutations in Perry syndrome","volume":"41","author":"Farrer","year":"2009","journal-title":"Nat. Genet"},{"issue":"4","key":"10.1016\/j.bbr.2023.114284_bib6","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1212\/01.WNL.0000134608.83927.B1","article-title":"Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS","volume":"63","author":"M\u00fcnch","year":"2004","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.bbr.2023.114284_bib7","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1002\/ana.20631","article-title":"Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD","volume":"58","author":"M\u00fcnch","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbr.2023.114284_bib8","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.parkreldis.2020.12.017","article-title":"Meta-iodobenzylguanidine myocardial scintigraphy in Perry disease","volume":"83","author":"Mishima","year":"2021","journal-title":"Park. Relat. Disord."},{"issue":"4","key":"10.1016\/j.bbr.2023.114284_bib9","doi-asserted-by":"crossref","first-page":"703","DOI":"10.4103\/aian.aian_890_21","article-title":"Perry syndrome with a novel mutation and a rare presentation: first report from India","volume":"25","author":"Krishnan","year":"2022","journal-title":"Ann. Indian Acad. Neurol."},{"issue":"12","key":"10.1016\/j.bbr.2023.114284_bib10","doi-asserted-by":"crossref","first-page":"4010","DOI":"10.1111\/ene.15048","article-title":"Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review","volume":"28","author":"Dulski","year":"2021","journal-title":"Eur. J. Neurol."},{"issue":"9","key":"10.1016\/j.bbr.2023.114284_bib11","doi-asserted-by":"crossref","first-page":"3695","DOI":"10.1007\/s10072-020-04962-w","article-title":"A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family","volume":"42","author":"Zhang","year":"2021","journal-title":"Neurol. Sci."},{"issue":"1","key":"10.1016\/j.bbr.2023.114284_bib12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.parkreldis.2007.07.014","article-title":"Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review","volume":"14","author":"Wider","year":"2008","journal-title":"Park. Relat. Disord."},{"issue":"11","key":"10.1016\/j.bbr.2023.114284_bib13","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1016\/j.parkreldis.2015.09.037","article-title":"Impulse control disorders and punding in Perry syndrome","volume":"21","author":"Mishima","year":"2015","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.bbr.2023.114284_bib14","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.parkreldis.2022.05.023","article-title":"L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome","volume":"100","author":"Dulski","year":"2022","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.bbr.2023.114284_bib15","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.parkreldis.2017.06.004","article-title":"DCTN1-related neurodegeneration: Perry syndrome and beyond","volume":"41","author":"Konno","year":"2017","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.bbr.2023.114284_bib16","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.parkreldis.2021.02.004","article-title":"Perry syndrome with progressive supranuclear palsy-like phenotype in a Portuguese family - Long-term clinical follow-up","volume":"84","author":"Barreto","year":"2021","journal-title":"Park. Relat. Disord."},{"issue":"6","key":"10.1016\/j.bbr.2023.114284_bib17","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1002\/ana.410340614","article-title":"Familial parkinsonism with depression: a clinicopathological study","volume":"34","author":"Bhatia","year":"1993","journal-title":"Ann. Neurol."},{"issue":"4","key":"10.1016\/j.bbr.2023.114284_bib18","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1212\/WNL.38.4.637","article-title":"Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management","volume":"38","author":"Roy","year":"1988","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.bbr.2023.114284_bib19","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1002\/mds.22950","article-title":"Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure","volume":"25","author":"Newsway","year":"2010","journal-title":"Mov. Disord."},{"issue":"7","key":"10.1016\/j.bbr.2023.114284_bib20","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1212\/WNL.58.7.1025","article-title":"Japanese family with parkinsonism, depression, weight loss, and central hypoventilation","volume":"58","author":"Tsuboi","year":"2002","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.bbr.2023.114284_bib21","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1007\/s00415-014-7262-6","article-title":"Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency","volume":"261","author":"Pretelt","year":"2014","journal-title":"J. Neurol."},{"key":"10.1016\/j.bbr.2023.114284_bib22","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.parkreldis.2020.06.006","article-title":"Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome","volume":"77","author":"\u010cierny","year":"2020","journal-title":"Park. Relat. Disord."}],"container-title":["Behavioural Brain Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0166432823000025?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0166432823000025?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T13:36:11Z","timestamp":1759066571000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0166432823000025"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3]]},"references-count":22,"alternative-id":["S0166432823000025"],"URL":"https:\/\/doi.org\/10.1016\/j.bbr.2023.114284","relation":{},"ISSN":["0166-4328"],"issn-type":[{"type":"print","value":"0166-4328"}],"subject":[],"published":{"date-parts":[[2023,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Chinese pedigree with Perry disease caused by the p.Y78H mutation in DCTN1: A 6-year clinical follow-up","name":"articletitle","label":"Article Title"},{"value":"Behavioural Brain Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbr.2023.114284","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"114284"}}