A novel variant of VPS13C gene related early-onset parkinson disease:a case report and literature review
Xu Huan
Wen Juan
Zhou Mengyao
Chen Ronghua
Wu Haohao
Huang Baogang
Bao Jianjian
Ba Ruiqiong
Du Kang
Abstract：Early-onset Parkinson's disease (EOPD) is a neurodegenerative disorder related to genetic factors, characterized by motor features including bradykinesia, rigidity, tremor, and postural instability, as well as various non-motor symptoms such as cognitive decline and psychiatric problems [1]. To date, approximately 30 genes have been identified as pathogenic genes for PD [1-2]. The VPS13C gene is involved in mitochondrial activity and vesicular transport. Previous genome-wide sequencing association studies have identified VPS13C rs2414739 as a risk variant for PD in populations including Russia, France, China, and Japan [2-3].
Keywords：VPS13C geneEarly-onset parkinson diseaseCerebellar atrophyHeterogeneityMitochondrial dysfunction
Publication Date：2025-05-20
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 337-342 )