Article
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2022
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
Abstract excerpt
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...
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