PRKN/PINK1 Mutations in a Chinese Patient With Early-Onset Parkinson's Disease.

ABSTRACT:

Background

PRKN and PINK1 gene mutations have been associated with Parkinson's disease (PD), particularly early-onset PD (EOPD).

Objectives

To describe the clinical and molecular features of a Chinese patient with EOPD who had uncommon PRKN and PINK1 mutations.

Methods

The patient's clinical history was reviewed, and whole-exome sequencing was performed to identify genetic mutations. An in vitro mitochondrial stress model was created to study the impact of PRKN deletion on the PINK1-PRKN pathway.

Results

The patient exhibited a 27-year history of tremors and other motor symptoms, with a notable response to levodopa and subthalamic nucleus deep brain stimulation (STN DBS). Genetic testing revealed an unusual double mutation of PRKN/PINK1, while PRKN deletion blo

SUBMITTER: Lu Z 

PROVIDER: S-EPMC12405661 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature