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

ABSTRACT:

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

SUBMITTER: Percetti M 

PROVIDER: S-EPMC9544864 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature