{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T23:37:45Z","timestamp":1770075465253,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Perry syndrome is a rare autosomal dominant parkinsonian disorder characterized by respiratory failure. The variability in respiratory presentation in this condition is incompletely understood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>We report 2 first\u2010degree relatives with Perry syndrome attributed to the same mutation in the Dynactin 1 <jats:italic>(DCTN1)<\/jats:italic> gene. Their clinical presentations with respect to parkinsonism and respiratory failure were heterogeneous. The proband presented with acute respiratory failure requiring invasive ventilation on a background of parkinsonism and remains alive more than 3\u2009years later with a good levodopa response. We contrast this with the published literature, in which acute respiratory presentations were associated with a poor outcome. The proband's brother presented with parkinsonism together with early falls and gait impairment and died following gradual hypoventilation despite noninvasive respiratory support.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Perry syndrome can show intrafamily heterogeneity in both movement disorder and respiratory presentations. Acute respiratory failure is often but not always associated with a poor outcome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13473","type":"journal-article","created":{"date-parts":[[2022,5,9]],"date-time":"2022-05-09T01:19:13Z","timestamp":1652059153000},"page":"816-820","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Perry Syndrome with Intrafamilial Heterogeneity in Presentation and Survival Including Acute Respiratory Failure: Case Series"],"prefix":"10.1002","volume":"9","author":[{"given":"Jeremy","family":"Boardman","sequence":"first","affiliation":[{"name":"Department of Neurology Lancashire Teaching Hospitals National Health Service (NHS) Trust  Preston United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Mascareno Ponte","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Manchester University NHS Foundation Trust  Manchester United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina","family":"Chaouch","sequence":"additional","affiliation":[{"name":"Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Manchester Academic Health Science Centre University of Manchester  Manchester United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7797-0756","authenticated-orcid":false,"given":"Christopher","family":"Kobylecki","sequence":"additional","affiliation":[{"name":"Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Manchester Academic Health Science Centre University of Manchester  Manchester United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1975.00490440058009"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2007.07.014"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.293"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-316864"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-306-47593-1_48"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22950"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2010.07.001"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7262-6"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0246-1"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15048"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13473","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.13473","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13473","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:42:14Z","timestamp":1760971334000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.13473"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/mdc3.13473"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.13473","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"2022-02-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}