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Background  Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as  TWNK .    Objectives  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).    Methods  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.    Results  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.    Conclusions  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.

TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study