Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early-onset Parkinson's disease

Yanyan Jiang, Meng Yu, Jing Chen, Hong Zhou, Wei Sun, Yunchuang Sun, Fan Li, Luhua Wei, Elmar H. Pinkhardt, Lin Zhang, Yun Yuan, Zhaoxia Wang

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: Genetic mutations associated with early-onset Parkinson's disease (EOPD) vary widely among different ethnicities. We detected the genes associated with EOPD in a Chinese cohort using next-generation sequencing (NGS) combined with multiplex ligation-dependent probe amplification (MLPA) and analyzed the phenotypic characteristics of the mutation carriers. Methods: Cohort of 23 sporadic EOPD patients (onset age ≤ 45 years) were recruited. Genetic causes were identified by a targeted NGS panel containing 136 known extrapyramidal disease-causative genes. Multiplications or deletions of PD-causing genes were detected using the MLPA method. Demographic and clinical data were obtained, analyzed, and compared between patients with and those without Parkin gene variants. Results: We identified 14 pathogenic or likely pathogenic variants (12 in Parkin, 1 in LRRK2, and 1 in VPS13C) in 10 patients (43.5%) and 8 rare variants of uncertain significance in 9 patients (39.1%). Parkin (34.8%) was the most common causative gene among our patients cohort, and exon deletion (62.5%) was the main type of variant. Patients with Parkin mutations had a younger age of onset, longer delay in diagnosis, slower disease progression, higher frequency of hyperreflexia, fatigue, and less hyposmia compared to patients without Parkin mutations. Conclusion: Our results revealed a higher prevalence of Parkin mutations in Chinese sporadic EOPD patients, and notably, exon deletion was the most common type of mutation. EOPD patients with Parkin mutations showed unique clinical characteristics.

Original languageEnglish (US)
Article numbere01765
JournalBrain and Behavior
Volume10
Issue number9
DOIs
StatePublished - Sep 1 2020

Keywords

  • genetic
  • next-generation sequencing
  • Parkin
  • Parkinson's disease

ASJC Scopus subject areas

  • Behavioral Neuroscience

Fingerprint Dive into the research topics of 'Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early-onset Parkinson's disease'. Together they form a unique fingerprint.

Cite this