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TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study
Author(s) -
Percetti Marco,
Franco Giulia,
Monfrini Edoardo,
Caporali Leonardo,
Minardi Raffaella,
La Morgia Chiara,
Valentino Maria Lucia,
Liguori Rocco,
Palmieri Ilaria,
Ottaviani Donatella,
Vizziello Maria,
Ronchi Dario,
Di Berardino Federica,
Cocco Antoniangela,
Macao Bertil,
Falkenberg Maria,
Comi Giacomo Pietro,
Albanese Alberto,
Giometto Bruno,
Valente Enza Maria,
Carelli Valerio,
Di Fonzo Alessio
Publication year - 2022
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.29139
Subject(s) - perspective (graphical) , parkinson's disease , disease , movement disorders , central nervous system disease , center (category theory) , degenerative disease , neuroscience , medicine , gerontology , psychology , art , chemistry , visual arts , crystallography
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.