铜/锌超氧化物岐化物1突变致肌萎缩侧索硬化一家系分析并文献复习

目的探索一肌萎缩侧索硬化(ALS)家系基因突变位点并进行文献复习。方法对已知常见的ALS致病基因进行检测,进而对国内铜/锌超氧化物岐化物1(SOD1)基因突变型ALS进行文献复习。结果该家系患者平均起病年龄为(37.8±11.6)岁,均以肢体症状起病,平均病程约1.3年,死于呼吸衰竭。该家系SOD1基因4号外显子第305位存在AG突变(D102G)。目前国内报道的SOD1突变基因有26种。起病年龄最早者20岁,最晚者67岁;病程最短者仅1月,最长者达14年。86.4%的患者以肢体症状起病,4.5%以延髓症状起病,7.7%的患者以肢体和延髓症状起病。SOD1基因可表现为完全外显或不完全外显。结论 D102 G为国内首次报道的ALS疾病相关突变。不同SOD1基因突变位点临床症状具有异质性。

An analysis of a family with amyotrophic lateral sclerosis caused by Cu/Zn superoxide dismutase 1 mutation and a literature review

Objective To investigate the gene mutation sites in a family with amyotrophic lateral sclerosis (ALS) and conduct a literature review.Methods The common causative genes of ALS were detected in this family,and a literature review was conducted for ALS with Cu/Zn superoxide dismutase 1 (SOD1) mutation.Results The mean age of onset in this family was 37.8 ± 11.6 years with initial symptoms in the extremities.The mean course of the disease was 1.3 years and all patients died of respiratory failure.This family carried the c.305 A ＞ G (D102G) mutation in the exon 4 of SOD1 gene.A total of 26 SOD1 mutations were reported in China.The age of onset ranged from 20 years to 67 years,and the course of the disease ranged from 1 month to 14 years.Of all patients,86.4％ had initial symptoms in the extremities,4.5％ had initial symptoms in the medulla oblongata,and 7.7％ had initial symptoms in both the extremities and the medulla oblongata.SOD1 gene showed complete or incomplete penetrance.Conclusions D102G is the mutation associated with ALS reported for the first time in China,and patients with different SOD1 mutation sites have different clinical symptoms.