Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

ABSTRACT:

Background

Genetic factors play a crucial role in the pathogenesis of Parkinson's disease (PD). However, no comprehensive study has described genetic alterations in Vietnamese patients diagnosed with PD. This study aimed to identify genetic causes and their association with clinical phenotypes in a Vietnamese PD cohort.

Methods

A total of 83 patients with early-onset PD (disease onset before the age of 50) were recruited for genetic analysis using a combination of multiplex ligation-dependent probe amplification and next-generation sequencing for a panel of 20 PD-associated genes.

Results

It was found that 37 out of 83 patients carried genetic alterations, with 24 pathogenic/likely pathogenic/risk variants and 25 variants of uncertain significance. The pathogenic/like

SUBMITTER: Do MD 

PROVIDER: S-EPMC10097096 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature