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Article

Rare variant screening and burden analysis of PLXNA1 in Parkinson's disease.

European journal of neurology - 1 Dec 2022

Li Chunyu, Lin Junyu, Jiang Qirui, Shang Huifang

Abstract excerpt

BACKGROUND AND PURPOSE: Recently, p.Glu1121Ter in PLXNA1 was identified as a potential cause of parkinsonism. However, no further replication has been conducted in a wider range of Parkinson's disease (PD) cohorts. We aimed to evaluate the genetic role of PLXNA1 in PD. METHODS: We systematically analyzed the rare protein-coding variants (minor allele frequency [MAF] < 0.01) in 1080 patients and 1051 healthy...

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PMID: 35852441
DOI: 10.1111/ene.15512

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