A systematic analysis of genotype–phenotype associations with PLA2G6

PLA2G6-associated neurodegeneration (PLAN) can be categorized into infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (aNAD), neurodegeneration with brain iron accumulation (NBIA), and early-onset parkinsonism (EOP). To determine the genotype–phenotype association in PLAN. “PLA2G...

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Published in:Parkinsonism & related disorders 2023-07, Vol.112, p.105477-105477, Article 105477
Main Authors: Xue, Jian, Ding, Dong-Xue, Xu, Guang-Yu, Wang, Pu-Zhi, Ge, Yi-Lun, Zhang, Jin-Ru, Cheng, Xiao-Yu, Wang, Yi-Ming, Jin, Hong, Luo, Si-Yang, Zheng, Yu-Han, Chen, Jing, Wang, Fen, Li, Dan, Mao, Cheng-Jie, Li, Kai, Liu, Chun-Feng
Format: Article
Language:English
Subjects:
Genotype
Phenotype
PLA2G6
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Summary:PLA2G6-associated neurodegeneration (PLAN) can be categorized into infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (aNAD), neurodegeneration with brain iron accumulation (NBIA), and early-onset parkinsonism (EOP). To determine the genotype–phenotype association in PLAN. “PLA2G6” or “PARK14” or “phospholipase A2 group VI” or “iPLA2β” were searched across MEDLINE from June 23, 1997, to March 1, 2023. A total of 391 patients were identified, and 340 patients of them were finally included in the assessment. The loss of function (LOF) mutation ratios were significantly different (p 
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2023.105477