Serum metabolomic characterization of PLA2G6-associated dystonia-parkinsonism: A case-control biomarker study.

ABSTRACT:

Introduction

Phospholipase A2 Group VI (PLA2G6), encoding calcium-independent phospholipase A₂, has been isolated as the gene responsible for an autosomal recessive form of early-onset Parkinson's disease (namely, PARK14). Compared to idiopathic Parkinson's disease (iPD), PARK14 has several atypical clinical features. PARK14 has an earlier age at onset and is more likely to develop levodopa-induced dyskinesia. In iPD, serum metabolomics has observed alterations in several metabolic pathways that are related to disease status and clinical manifestations. This study aims to describe the serum metabolomics features of patients with PARK14.

Design

This case-control biomarker study tested nine patients diagnosed with PARK14. Eight age and sex-matched healthy subjects w

SUBMITTER: Chen C 

PROVIDER: S-EPMC9406281 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature