PLA2G6基因突变致早发型帕金森病2例

Two cases of PLA2G6-associated young onset Parkinson disease

PLA2G6基因是常染色体隐性遗传相关的致病基因,临床报道较少。此基因突变可导致iPLA-2β酶不同程度的改变,临床表现为四种不同的临床类型。本文报告两例PLA2G6基因突变导致的青年型帕金森综合征。其中1例患者为PLA2G6基因c.991G>T合并c.1A>G双杂合突变,临床表型为肌张力障碍-帕金森综合征(dystonia-Parkinsonism,DP),多巴胺能药物治疗有效但运动并发症出现较早,肌张力障碍治疗效果欠佳。患者接受了脑深部电刺激手术,术后运动功能较前改善;另1例患者为PLA2G6基因c.991G>T合并c.2752A>G、c.35C>G杂合突变,临床表型为早发型帕金森综合征(early-onset Parkinsonism,EOP)型,左旋多巴治疗效果欠佳。临床分型与杂合突变导致临床异质性有关。基因检测是诊断及鉴别要点。

PLA2G6 mutation was a rare autosome recessive disease-causing gene.This gene mutation can cause iPLA-2βenzyme changes in different degrees,and the clinical manifestations are four different clinical types.Two patients of early-onset Parkinson disease caused by PLA2G6 mutation were reported.Case 1 was young male with an insidious onset.The clinical manifestation was Dystonia-Parkinsonism with Genetic testing showing compound heterozygous mutation in PLA2G6 gene:c.991G>T,c.1A>G.The patient underwent DBS(Deep brain stimulation)surgery 5 years later.Case 2 was Early-Onset Parkinsonism with ATP13A2 gene mutation c.2752A>G c.35C>G and PLA2G6 gene:c.991G>T.The case 2 did not respond to levodopa well.The diversity of clinic phenotypes were associated with locus heterogeneity in PLA2G6 related parkinsonism.Genetic testing is essential for diagnosis and differential diagnosis.