{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,10,2]],"date-time":"2024-10-02T04:20:33Z","timestamp":1727842833580},"reference-count":19,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","prd-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism &amp; Related Disorders"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1016\/j.parkreldis.2024.106946","type":"journal-article","created":{"date-parts":[[2024,3,21]],"date-time":"2024-03-21T23:47:13Z","timestamp":1711064833000},"page":"106946","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Expert Commentary: A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism"],"prefix":"10.1016","volume":"127","author":[{"given":"M. Claudia","family":"Uribe Roca","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2024.106946_bib1","article-title":"A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism","volume":"9","author":"Eissazade","year":"2023","journal-title":"Parkinsonism Relat. Disorders"},{"key":"10.1016\/j.parkreldis.2024.106946_bib2","first-page":"e1e1","article-title":"Homozygous alpha-synuclein p.A53V in familial Parkinson's disease","volume":"1","author":"Yoshino","year":"2017","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.parkreldis.2024.106946_bib3","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.3389\/fneur.2018.01021","article-title":"A meta-analysis of \u03b1-synuclein multiplication in familial parkinsonism","volume":"9","author":"Book","year":"2018","journal-title":"Front. Neurol."},{"issue":"6","key":"10.1016\/j.parkreldis.2024.106946_bib4","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1111\/neup.12687","article-title":"A novel SNCA E83Q mutation in a case of dementia with Lewy bodies and atypical frontotemporal lobar degeneration","volume":"40","author":"Kapasi","year":"2020","journal-title":"Neuropathology"},{"issue":"3","key":"10.1016\/j.parkreldis.2024.106946_bib5","first-page":"901","article-title":"Rapidly progressive dementia","volume":"28","author":"Day","year":"2022","journal-title":"Continuum"},{"issue":"1","key":"10.1016\/j.parkreldis.2024.106946_bib6","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1001\/jamaneurol.2022.4251","article-title":"Autoimmune encephalitis misdiagnosis in adults","volume":"80","author":"Flanagan","year":"2023","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.parkreldis.2024.106946_bib7","doi-asserted-by":"crossref","DOI":"10.1126\/science.274.5290.1197","article-title":"Mapping of a gene for Parkinson's disease to chromosome 4q21-q23","volume":"274","author":"Polymeropoulos","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.parkreldis.2024.106946_bib8","doi-asserted-by":"crossref","first-page":"2045","DOI":"10.1126\/science.276.5321.2045","article-title":"Mutation in the alpha-synuclein gene identified in families with Parkinson's disease","volume":"276","author":"Polymeropoulos","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.parkreldis.2024.106946_bib9","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng0298-106","article-title":"Ala30Pro mutation in the gene encoding \u03b1-synuclein in Parkinson's disease","volume":"18","author":"Kr\u00fcger","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.parkreldis.2024.106946_bib10","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/ana.10795","article-title":"The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia","volume":"55","author":"Zarranz","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.parkreldis.2024.106946_bib11","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1002\/mds.25421","article-title":"Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease","volume":"28","author":"Appel-Cresswell","year":"2013","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2024.106946_bib12","doi-asserted-by":"crossref","first-page":"2180.e1","DOI":"10.1016\/j.neurobiolaging.2014.03.024","article-title":"Novel \u03b1-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology","volume":"35","author":"Pasanen","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.parkreldis.2024.106946_bib13","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.1002\/mds.28534","article-title":"A novel SNCA A30G mutation causes familial Parkinson's disease","volume":"36","author":"Liu","year":"2021","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2024.106946_bib14","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1007\/s00401-013-1096-7","article-title":"\u03b1-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?","volume":"125","author":"Kiely","year":"2013","journal-title":"Acta Neuropathol."},{"issue":"Suppl. 1","key":"10.1016\/j.parkreldis.2024.106946_bib15","first-page":"S1","article-title":"Autosomal dominant Parkinson's disease caused by SNCA duplications","volume":"22","author":"Konno","year":"2016","journal-title":"Parkinsonism Relat. Disorders"},{"key":"10.1016\/j.parkreldis.2024.106946_bib16","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1126\/science.1090278","article-title":"Alpha-synuclein locus triplication causes Parkinson's disease","volume":"302","author":"Singleton","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.parkreldis.2024.106946_bib18","first-page":"1e","article-title":"Novel A18T and pA29S substitutions in a-synuclein may be associated with sporadic Parkinson's disease","author":"Hoffman-Zacharska","year":"2013","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.parkreldis.2024.106946_bib19","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.parkreldis.2020.11.001","article-title":"Pathological findings in a patient with alpha-synuclein p.A53T and familial Parkinson's disease","volume":"81","author":"Nishioka","year":"2020","journal-title":"Park. Relat. Disord."},{"issue":"17","key":"10.1016\/j.parkreldis.2024.106946_bib17","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abn0044","article-title":"A NAC domain mutation (E83Q) unlocks the pathogenicity of human alpha-synuclein and recapitulates its pathological diversity","volume":"8","author":"Kumar","year":"2022","journal-title":"Sci. Adv."}],"container-title":["Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802024009581?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802024009581?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T17:22:50Z","timestamp":1727803370000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802024009581"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10]]},"references-count":19,"alternative-id":["S1353802024009581"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2024.106946","relation":{},"ISSN":["1353-8020"],"issn-type":[{"type":"print","value":"1353-8020"}],"subject":[],"published":{"date-parts":[[2024,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expert Commentary: A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2024.106946","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"106946"}}