Abstract: Objective　To investigate the clinical phenotype and PLA2G6 genotypic characteristics of phospholipase A2- associated neurodegenerative disease（PLAN）in China. Methods　The clinical data of 5 cases of PLAN were retrospectively collected at Children’s Hospital of Fudan University from June 2016 to May 2019. Literature reports by Chinese scholars from January 2006 to March 2020 were retrieved from CKNI，Wanfang，WeiPu and pubmed databases with PLA2G6 and neurodegeneration with brain iron accumulation as the key words，and the characteristics of PLAN phenotype and genotype in China were analyzed. Results　（1）Our cases：All the five cases were infantile neuroaxonal dystrophy（INAD），and the median age of onset was 18 months. The initial symptoms of four cases were developmental regression and one was gait instability，One case had seizures，showing spasms and focal seizures. In neurological examinations，muscle strength of four cases was 1-4 grade and one was normal. One case revealed positive reflex of Babinski's sign. Four cases had active deep reflex and 1 case had hyperreflexia. Cerebellar atrophy was observed in 3 cases by cranial MRI. Three cases had neurogenic changes by electromyograms. Four cases were followed up. Their existing muscle strength was 0 to 3 grade，and 3 cases completely lost their speaking ability. All the 5 cases in this group had complex heterozygous variation of PLA2G6，and there were 10 different variations，of which missense variation accounted for 50%. Seven kinds of variants were not reported in human gene mutation database（HGMD）. （ 2）Literature review：A total of 12 articles were retrieved in 14 years，reporting 43 cases of PLAN in China，among which 36 cases（83.7%） were INAD，3 cases（7.0%） were atypical INAD，and 4 cases（9.3%） were PLAN -DP. Six cases（14.0%）had epilepsy，and five of them showed focal seizures or generalized tonic seizures. INAD was clinically diagnosed in 10 cases and 33 cases were definitely diagnosed by molecular genetics. A total of 49 variants of PLA2G6 gene were detected in these 43 cases，missense variation accounting for 55.1%（27）. Conclusion　INAD is the most common clinical phenotype of PLAN，and the main characteristic is that it has both peripheral and central nerve damage and it progresses rapidly. PLA2G6 is dominated by missense mutation，but no hot spot mutation sites have been found.There is no effective treatment currently. 

Key words: phospholipase A2-associated neurodegenerative disease, PLA2G6 gene, uariants, infantile neuroaxonal dystrophy

摘要： 目的　探讨国内非钙依赖型磷脂酶A2相关性神经变性病（PLAN）临床表型和PLA2G6基因型特点。方法　回顾性收集2016年6月至2019年5月复旦大学附属儿科医院确诊PLAN患儿的临床资料，并以“PLA2G6”和 “脑组织铁沉积神经变性病”为检索词在“中国知网、万方、维普、Pubmed”数据库检索2006年1月至2020年3月我国学者报道PLAN病例的文献，总结分析国内PLAN表型和基因型特点。结果　5例患儿均为婴儿神经轴索营养不良（INAD），发病年龄中位数18月龄，首发症状中4例为发育倒退，1例为步态不稳，1例合并癫痫，表现为痉挛和局灶性发作。神经系统查体中除1例肌力正常外，4例肌力为 1~4级，1例病理征阳性，4例深反射活跃，1例深反射亢进。头颅磁共振成像（MRI）检查中3例小脑萎缩。3例行肌电图均提示神经源性损害改变。4例进行随访，现存肌力0～ 3级，3例完全丧失语言能力。本组5例均具有PLA2G6复合杂合变异，共有10种不同变异，错义变异（50%），7种未在人类基因突变数据库（HGMD）中报道。文献复习：14年间共检索到12篇文献，报道43例PLAN，其中36例（83.7%）为INAD，3例（7.0%）为不典型INAD，4例（9.3%）为PLA2G6相关性肌张力障碍-帕金森综合征（PLAN-DP）。6例（14.0%）合并癫痫，5例癫痫发作类型为局灶性发作或全面性强直。10例临床诊断INAD，33例经分子遗传学明确诊断。43例共检测到PLA2G6基因49种变异类型，其中错义变异27种（55.1%）。结论　INAD是PLAN最常见的临床表型，同时存在周围神经和中枢神经损害，且病情进展迅速是其主要特点。PLA2G6以错义变异为主，未发现热点变异位点，目前尚无有效治疗方法。

关键词:  , 非钙依赖型磷脂酶A2相关性神经变性病, PLA2G6基因, 变异, 婴儿神经轴索营养不良