title: Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration.
authors: Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, PR China.
authors: Fei
authors: F
authors: Xie
authors: Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, PR China; Department of Pediatrics, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, PR China.
authors: Zhidong
authors: Z
authors: Cen
authors: Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, PR China.
authors: Zhiyuan
authors: Z
authors: Ouyang
authors: Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, PR China.
authors: Sheng
authors: S
authors: Wu
authors: Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
authors: Jianfeng
authors: J
authors: Xiao
authors: Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, PR China. Electronic address: luoweirock@126.com.
authors: Wei
authors: W
authors: Luo
mesh_terms: D000328:Adult; D017668:Age of Onset; D003241:Consanguinity; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000503:physiopathology*; D010641:Phenotype
chemical_list: D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human
keywords: PLA2G6; PLA2G6-associated neurodegeneration; Pure autosomal-recessive early-onset parkinsonism