| SOD1A4V基因突变致家族性肌萎缩侧索硬化症伴腓肠肌水肿一例临床表型及基因突变分析 |
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| 引用本文： | 侯媌媌,毛晓薇,刘伟,丁银锋,朱雯华,侯晓军. SOD1A4V基因突变致家族性肌萎缩侧索硬化症伴腓肠肌水肿一例临床表型及基因突变分析[J]. 中国现代神经疾病杂志, 2019, 0(6): 423-428 |
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| 作者姓名： | 侯媌媌 毛晓薇 刘伟 丁银锋 朱雯华 侯晓军 |
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| 作者单位： | 海军军医大学附属长海医院神经内科;复旦大学附属华山医院神经内科 |
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| 摘 要： | 目的回顾分析1例SOD1^A4V基因突变致家族性肌萎缩侧索硬化症患者的临床表型及基因突变特点。方法与结果男性患者,34岁。临床表现为四肢下运动神经元损害,呼吸衰竭,双侧腓肠肌肥大;MRI可见双侧腓肠肌明显水肿;腓肠肌组织活检提示神经源性损害。第二代测序技术显示存在SOD1基因c.14C>T(p.Ala5Val)杂合突变,明确诊断为家族性肌萎缩侧索硬化症,该家系证实为家族性肌萎缩侧索硬化症家系。随访至发病14个月后死亡。结论SOD1A4V基因突变致家族性肌萎缩侧索硬化症国内罕见,应尽可能同时进行患者及其直系亲属的基因检测,有助于明确诊断及其他家族成员早期诊断。
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| 关 键 词： | 肌萎缩侧索硬化 肌,骨骼 超氧化物歧化酶1 基因 突变 系谱 |
Clinical phenotype and gene mutation analysis on one case of familial amyotrophic lateral sclerosis complicated with gastrocnemius edema caused by SOD1A4V |
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| HOU Miao-miao,MAO Xiao-wei,LIU Wei,DING Yin-feng,ZHU Wen-hua,HOU Xiao-jun. Clinical phenotype and gene mutation analysis on one case of familial amyotrophic lateral sclerosis complicated with gastrocnemius edema caused by SOD1A4V[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2019, 0(6): 423-428 |
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| Authors: | HOU Miao-miao MAO Xiao-wei LIU Wei DING Yin-feng ZHU Wen-hua HOU Xiao-jun |
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| Affiliation: | (Department of Neurology,Changhai Hospital,Navy Medical University,Shanghai 200433,China;Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China) |
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| Abstract: | HOU Miao-miao;MAO Xiao-wei;LIU Wei;DING Yin-feng;ZHU Wen-hua;HOU Xiao-jun(Department of Neurology,Changhai Hospital,Navy Medical University,Shanghai 200433,China;Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China) |
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| Keywords: | Amyotrophic lateral sclerosis Muscle,skeletal Superoxide dismutase-1 Genes Mutation Pedigree |
| 本文献已被 CNKI 维普 等数据库收录！ |
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