Early-onset parkinsonism linked to combined heterozygous mutations in PANK2 and PLA2G6: A case report

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.