{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T14:39:13Z","timestamp":1777905553012,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T00:00:00Z","timestamp":1657065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006506","name":"Ministry of Health","doi-asserted-by":"publisher","award":["Ricerca Corrente"],"award-info":[{"award-number":["Ricerca Corrente"]}],"id":[{"id":"10.13039\/501100006506","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":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as <jats:italic>TWNK<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The aim was to screen for <jats:italic>TWNK<\/jats:italic> variants in an Italian cohort of Parkinson's disease (PD) patients and to assess the occurrence of parkinsonism in patients presenting with <jats:italic>TWNK<\/jats:italic>\u2010related autosomal dominant progressive external ophthalmoplegia (<jats:italic>TWNK<\/jats:italic>\u2010adPEO).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic DNA of 263 consecutively collected PD patients who underwent diagnostic genetic testing was analyzed with a targeted custom gene panel including <jats:italic>TWNK<\/jats:italic>, as well as genes causative of monogenic PD. Genetic and clinical data of 18 <jats:italic>TWNK<\/jats:italic>\u2010adPEO patients with parkinsonism were retrospectively analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Six of 263 PD patients (2%), presenting either with isolated PD (n\u00a0=\u00a04) or in combination with bilateral ptosis (n\u00a0=\u00a02), carried <jats:italic>TWNK<\/jats:italic> likely pathogenic variants. Among 18 <jats:italic>TWNK<\/jats:italic>\u2010adPEO patients, 5 (28%) had parkinsonism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We show candidate <jats:italic>TWNK<\/jats:italic> variants occurring in PD without PEO. This finding will require further confirmatory studies. \u00a9 2022 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.29139","type":"journal-article","created":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T09:33:13Z","timestamp":1657099993000},"page":"1938-1943","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["<scp><i>TWNK<\/i><\/scp> in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4679-3360","authenticated-orcid":false,"given":"Marco","family":"Percetti","sequence":"first","affiliation":[{"name":"Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation University of Milan  Milan Italy"},{"name":"Neurology Unit, San Gerardo Hospital  ASST Monza, Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Franco","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation University of Milan  Milan Italy"},{"name":"Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico Neurology Unit  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4720-9234","authenticated-orcid":false,"given":"Edoardo","family":"Monfrini","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation University of Milan  Milan Italy"},{"name":"Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico Neurology Unit  Milan 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