Genetic findings in a Turkish clinical cohort with hereditary Parkinson's disease

Parkinson's disease (PD) is a multifactorial neurodegenerative disorder driven by a complex interplay of genetic and environmental factors. This study aimed to characterize the mutational spectrum in a cohort of patients with clinically suspected hereditary PD using complementary genetic testing approaches.

A total of 36 patients underwent genetic evaluation. Targeted next-generation sequencing (NGS) of a 10-gene PD panel was performed in 35 patients, Multiplex ligation-dependent probe amplification (MLPA)-based copy-number analysis using an 8-gene panel was conducted in 9 patients, and targeted Sanger sequencing was performed in one patient with a known familial PRKN variant.

The most clinically relevant findings involved the PRKN gene. A homozygous pathogenic variant in the PRKN gene was detected in 3 patients, compound heterozygous deletions involving the PRKN and PACRG genes in one patient, and a single heterozygous PRKN variant classified as pathogenic was detected in one patient. Additionally, variants of uncertain significance were identified in 7 patients in the ATP13A2, PRKN, VPS35, PINK1, and PLA2G6 genes.

Using complementary molecular genetic techniques, we identified clinically relevant genetic findings in a cohort of 36 patients with suspected hereditary Parkinson's disease. These findings provide population-specific data on the mutational spectrum of PD in a Turkish clinical cohort and contribute to the characterization of the regional genetic landscape.