携带SOD1-p.A5S突变的1例肌萎缩侧索硬化患者病例报道及相关文献分析  

A case report of amyotrophic lateral sclerosis carrying SOD1-p.A5S mutation and related literature analysis

作　　者：周青青 贾蕊[1] 靳娇婷[1] 党静霞[1] ZHOU Qingqing;JIA Rui;JIN Jiaoting;DANG Jingxia(Department of Neurology,The First Affiliated Hospital of Xi’an Jiaotong University,Xi’an 710061,China)

机构地区：[1]西安交通大学第一附属医院神经内科,陕西西安710061

出　　处：《西安交通大学学报（医学版）》2024年第1期139-144,共6页Journal of Xi’an Jiaotong University（Medical Sciences）

摘　　要：目的肌萎缩侧索硬化症(amyotrophic lateral sclerosis,ALS)是一种进行性和致命的神经退行性疾病。目前认为Cu/Zn超氧化物歧化酶1基因(Cu/Zn superoxide dismutase gene 1,SOD1)突变是导致家族性ALS的原因之一,对可疑ALS家族史的患者进行SOD1基因测序可能有帮助。本文首次报道中国籍汉族SOD1-p.A5S突变的肌萎缩侧索硬化1例,并总结其临床特征。方法与结果首次报道中国籍汉族SOD1-p.A5S突变的1例ALS临床患者并复习相关病例文献,总结其临床特征。研究病例为男性,34岁,以“双下肢无力2年,加重伴双手无力半年”之主诉入住西安交通大学第一附属医院神经内科,主要临床表现为逐渐进展的四肢无力,无吞咽困难,无认知功能障碍。入院后进一步完善常规检查及肌电图等排除其他诊断,并行基因检测。结合患者典型的临床表现和肌电图提示颈髓、胸髓和腰髓三个区域存在下运动神经元受累的证据,合理排除其他诊断及特征性基因检测结果,诊断为ALS。基因检测结果提示患者存在SOD1一号外显子c.13G>T(p.A5S)杂合突变,其母有可疑病史但已死亡未进行基因验证。出院后随访截至2022年8月21日,随访时间共38个月,病程62个月。进一步查阅文献报道的同一位点突变的其他患者的临床特点,总结发现本例突变患者与其他文献报道同一位点突变患者进展较慢。结论基因测序是诊断家族性ALS的有利工具。SOD1一号外显子c.13G>T(p.A5S)突变为罕见的致病性变异,该亚型患者进展较慢,进一步说明基因检测在ALS的诊断和预后判定中具有重要价值。Objective Amyotrophic lateral sclerosis(ALS)is a progressive and fatal neurodegenerative disease.Mutations in the Cu/Zn superoxide dismutase 1 gene(SOD1)have been identified as the cause of familial ALS.Sequencing the SOD1 gene may be helpful for patients with a suspected family history of ALS.This article reports for the first time a case of amyotrophic lateral sclerosis with SOD1-p.A5S mutation in Han Chinese and summarizes its clinical characteristics.Method and Results This is the first report on Chinese Han of ALS with SOD1-p.A5S mutation and review of relevant case literature to summarize its clinical characteristics.The study case is a 34-year-old male who was admitted to the Neurology Department of The First Affiliated Hospital of Xi’an Jiaotong University with a complaint of“weakness in both lower limbs for 2 years,worsening with both hands for 6 months”.The main clinical manifestations were progressive limb weakness,no swallowing difficulties or cognitive impairment.Further improvement of routine examinations and electromyography after admission were made to rule out other diagnoses,and genetic testing was conducted.Based on the patient’s typical clinical manifestations and evidence of involvement of lower motor neurons in the cervical,thoracic,and lumbar spinal cord areas indicated by electromyography,other diagnoses and characteristic gene testing results were reasonably excluded,and ALS was diagnosed.The genetic testing results indicated that the patient had a heterozygous mutation in SOD1 exon 1,c.13G>T(p.A5S),and his mother had a suspicious medical history but died without genetic verification.After discharge,the follow-up period lasted until August 21,2022,with a total of 38 months and a course of 62 months.Further review of the clinical characteristics of other patients with the same site mutation reported in the literature reveals that the progress of this patient with the mutation was slower than that of other patients with the same site mutation reported in the literature.Conclusion Th

关 键 词：肌萎缩侧索硬化症(ALS) 铜锌超氧化物歧化酶1基因(SOD1) 基因突变 基因检测 

分 类 号：R741[医药卫生—神经病学与精神病学]