{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T16:13:58Z","timestamp":1778602438834,"version":"3.51.4"},"reference-count":12,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100018841","name":"Associazione Italiana Ricerca Alzheimer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018841","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["2023\\u20132024"],"award-info":[{"award-number":["2023\\u20132024"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007560","name":"Chiesi Farmaceutici","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007560","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002803","name":"Fondazione Cariplo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002803","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","prd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism & Related Disorders"],"published-print":{"date-parts":[[2024,6]]},"DOI":"10.1016\/j.parkreldis.2024.106943","type":"journal-article","created":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T18:21:08Z","timestamp":1710958868000},"page":"106943","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report"],"prefix":"10.1016","volume":"123","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1206-4170","authenticated-orcid":false,"given":"Alberto","family":"Imarisio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Pilotto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Lupini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Biasiotto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Zanella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riccardo","family":"Curr\u00f2","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Vegezzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Cortese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Palmieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Padovani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2024.106943_bib1","doi-asserted-by":"crossref","first-page":"5281","DOI":"10.3390\/ijms24065281","article-title":"Genetics of multiple system atrophy and progressive supranuclear palsy: a systemized review of the literature","volume":"24","author":"Bougea","year":"2023","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.parkreldis.2024.106943_bib2","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1093\/brain\/awr069","article-title":"Genotype\u2013phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia","volume":"134","author":"Yokoseki","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.parkreldis.2024.106943_bib3","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1080\/14734220601145459","article-title":"The neural basis of ataxic dysarthria","volume":"6","author":"Spencer","year":"2007","journal-title":"Cerebellum"},{"key":"10.1016\/j.parkreldis.2024.106943_bib4","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1002\/mds.29005","article-title":"The movement disorder society criteria for the diagnosis of multiple system atrophy","volume":"37","author":"Wenning","year":"2022","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2024.106943_bib5","doi-asserted-by":"crossref","first-page":"7437","DOI":"10.1073\/pnas.1100084108","article-title":"Aprataxin localizes to mitochondria and preserves mitochondrial function","volume":"108","author":"Sykora","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.parkreldis.2024.106943_bib6","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1001\/jamaneurol.2017.4373","article-title":"Clinical, biomarker, and molecular delineations and genotype-Phenotype correlations of ataxia with oculomotor apraxia type 1","volume":"75","author":"Renaud","year":"2018","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.parkreldis.2024.106943_bib7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5334\/tohm.557","article-title":"Complex movement disorders in Ataxia with oculomotor apraxia type 1: beyond the cerebellar syndrome","volume":"10","author":"Pedroso","year":"2020","journal-title":"Tremor and Other Hyperkinetic Movements"},{"key":"10.1016\/j.parkreldis.2024.106943_bib8","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s00415-007-0657-x","article-title":"Nigrostriatal involvement in ataxia with oculomotor apraxia type 1","volume":"255","author":"Salvatore","year":"2008","journal-title":"J. Neurol."},{"key":"10.1016\/j.parkreldis.2024.106943_bib9","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.parkreldis.2006.08.010","article-title":"Aprataxin (APTX) gene mutations resembling multiple system atrophy","volume":"13","author":"Baba","year":"2007","journal-title":"Parkinsonism Relat. Disorders"},{"key":"10.1016\/j.parkreldis.2024.106943_bib10","doi-asserted-by":"crossref","DOI":"10.15252\/embj.201798875","article-title":"Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease","volume":"37","author":"Tumbale","year":"2018","journal-title":"EMBO J."},{"key":"10.1016\/j.parkreldis.2024.106943_bib11","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000207905","article-title":"Validation study of the MDS criteria for the diagnosis of multiple system atrophy in the mayo clinic brain bank","author":"Sekiya","year":"2023","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2024.106943_bib12","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/mds.29304","article-title":"Pathological validation of the MDS criteria for the diagnosis of multiple system atrophy","volume":"38","author":"Virameteekul","year":"2023","journal-title":"Mov. Disord."}],"container-title":["Parkinsonism & Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802024009556?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802024009556?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T15:39:41Z","timestamp":1778600381000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802024009556"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":12,"alternative-id":["S1353802024009556"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2024.106943","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2024,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2024.106943","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":"106943"}}