家族性肌萎缩侧索硬化症一家系两例

Familial amyotrophic lateral sclerosis:a report of two cases

肌萎缩侧索硬化症(amyotrophic lateral sclerosis,ALS)是成人最常见的运动神经元病,其病理特征表现为上下运动神经元进行性丢失。超氧化物歧化酶1(superoxide dismutase1,SOD1)基因突变约占家族性ALS病例的20%。本文报道了两例家族性ALS患者,均为SOD1基因外显子的Gly148Asp突变,临床表现为病程进展迅速,主要影响下运动神经元,均在发病一年内进展为严重的全身肌肉萎缩、呼吸衰竭,生存期较短。

Amyotrophic lateral sclerosis(ALS),the most common motor neuron disease in adults,is characterized by progressive loss of upper and lower motor neurons.Mutations in the superoxide dismutase gene(SOD1) account for about 20% of familial ALS cases.Here,we report Gly148Asp mutations in the exons of the SOD1 gene in two patients with familial ALS characterized by rapid progression of the disease,primarily affecting inferior motor neurons.Both patients developed severe systemic muscle atrophy and respiratory failure within one year of onset,having a short survival time.