Early-onset parkinsonism linked to combined heterozygous mutations in PANK2 and PLA2G6: A case report. (December 2021)

• Record Type: Journal Article
• Authors: Li, Juan; Wu, Tieyu; Li, Chuan; Wu, Tong; Qin, Yan; Chen, Xianwen
• Is Part Of: Parkinsonism & related disorders. Volume 93(2021)
• Page Start: 71
• Page End: 73
• Publication Date: 2021-12
• Subjects: Pantothenate kinase 2 gene -- Phospholipase A2 group VI gene -- Early onset parkinsonism -- Compound heterozygous mutation; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2021.11.008
• Languages: English
• ISSNs: 1353-8020

Abstract

Abstract: Homozygous mutations as well as compound heterozygous mutations in PANK2 or PLA2G6 have been reported to bring about early-onset parkinsonism (EOP). However, EOP caused by joint heterozygous mutations of the two genes is unusual. Here, we report a case of complex heterozygous mutations involving both the PANK2 and PLA2G6 genes in a Chinese woman.