Category: Parkinson's Disease: Genetics
Objective: The aim of the study 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).
Background: Parkinsonian features have been described in patients harboring variants in nuclear genes which encode for proteins primarily involved in mitochondrial DNA maintenance.
Method: Genomic DNA of 263 PD patients was analyzed with a targeted custom gene panel including POLG, TWNK, OPA1, SLC25A46, 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, five (28%) had parkinsonism.
Conclusion: Our observations suggest that TWNK variants can be associated with PD, even in the absence of clinical evidence of adPEO.
To cite this abstract in AMA style:
M. Percetti, G. Franco, E. Monfrini, L. Caporali, R. Minardi, C. La Morgia, M. Valentino, R. Liguori, I. Palmieri, D. Ottaviani, M. Vizziello, D. Ronchi, F. Di Berardino, A. Cocco, G. Comi, A. Albanese, B. Giometto, E. Valente, V. Carelli, A. Di Fonzo. TWNK in Parkinson’s disease: a Movement Disorder and Mitochondrial Disease Center perspective study [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/twnk-in-parkinsons-disease-a-movement-disorder-and-mitochondrial-disease-center-perspective-study/. Accessed May 10, 2025.« Back to 2022 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/twnk-in-parkinsons-disease-a-movement-disorder-and-mitochondrial-disease-center-perspective-study/