Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.

ABSTRACT:

Background

Genetic factors play an important role in the pathogenesis of early-onset Parkinson's disease (EOPD). To date, more than 20 pathogenic genes associated with Parkinson's disease (PD) have been identified. This study aims to explore the mutation spectrum of EOPD and the clinical characteristics of mutation carriers in eastern China.

Methods

We recruited 155 unrelated EOPD patients, including 8 familial and 147 sporadic EOPD (age at onset ≤ 50 years). Overall, 24 known PD-associated genes were detected by whole exome sequencing and multiplex ligation-dependent probe amplification (MLPA) from patient samples. The genetic and clinical characteristics of pathogenic/likely pathogenic (P/LP) loci in this cohort were analyzed.

Results

Overall, 14 (9.03%) patients we

SUBMITTER: Hua P 

PROVIDER: S-EPMC9131032 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature