{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["37(9)"],"submitter":["Percetti M"],"pubmed_abstract":["<h4>Background</h4>Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as TWNK.<h4>Objectives</h4>The aim was to screen for TWNK variants in an Italian cohort of Parkinson's disease (PD) patients and to assess the occurrence of parkinsonism in patients presenting with TWNK-related autosomal dominant progressive external ophthalmoplegia (TWNK-adPEO).<h4>Methods</h4>Genomic DNA of 263 consecutively collected PD patients who underwent diagnostic genetic testing was analyzed with a targeted custom gene panel including TWNK, as well as genes causative of monogenic PD. Genetic and clinical data of 18 TWNK-adPEO patients with parkinsonism were retrospectively analyzed.<h4>Results</h4>Six of 263 PD patients (2%), presenting either with isolated PD (n = 4) or in combination with bilateral ptosis (n = 2), carried TWNK likely pathogenic variants. Among 18 TWNK-adPEO patients, 5 (28%) had parkinsonism.<h4>Conclusions</h4>We show candidate TWNK variants occurring in PD without PEO. This finding will require further confirmatory studies. © 2022 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society."],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pagination":["1938-1943"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9544864"],"repository":["biostudies-literature"],"pubmed_title":["TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study."],"pmcid":["PMC9544864"],"pubmed_authors":["Giometto B","Vizziello M","Percetti M","Minardi R","Caporali L","La Morgia C","Cocco A","Liguori R","Di Berardino F","Valentino ML","Carelli V","Monfrini E","Franco G","Palmieri I","Macao B","Valente EM","Ronchi D","Comi GP","Albanese A","Falkenberg M","Ottaviani D","Di Fonzo A"],"additional_accession":[]},"is_claimable":false,"name":"TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.","description":"<h4>Background</h4>Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as TWNK.<h4>Objectives</h4>The aim was to screen for TWNK variants in an Italian cohort of Parkinson's disease (PD) patients and to assess the occurrence of parkinsonism in patients presenting with TWNK-related autosomal dominant progressive external ophthalmoplegia (TWNK-adPEO).<h4>Methods</h4>Genomic DNA of 263 consecutively collected PD patients who underwent diagnostic genetic testing was analyzed with a targeted custom gene panel including TWNK, as well as genes causative of monogenic PD. Genetic and clinical data of 18 TWNK-adPEO patients with parkinsonism were retrospectively analyzed.<h4>Results</h4>Six of 263 PD patients (2%), presenting either with isolated PD (n = 4) or in combination with bilateral ptosis (n = 2), carried TWNK likely pathogenic variants. Among 18 TWNK-adPEO patients, 5 (28%) had parkinsonism.<h4>Conclusions</h4>We show candidate TWNK variants occurring in PD without PEO. This finding will require further confirmatory studies. © 2022 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2025-04-05T20:11:25.941Z","creation":"2025-04-05T20:11:25.941Z"},"accession":"S-EPMC9544864","cross_references":{"pubmed":["35792653"],"doi":["10.1002/mds.29139"]}}