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.