Amyotrophic lateral sclerosis (ALS), the most common adult onset motor neuron disease, is pathologically characterized by progressive loss of the upper and lower motor neurons. Mutations in the Cu/Zn superoxide dismutase gene (SOD1) account for about 20% of familial ALS cases and a small percentage of sporadic ALS (SALS) cases, and have revealed a validated genotype-phenotype correlation. Herein, we report a p.Gly13Arg mutation in SOD1 exon 1 in a patient with SALS who presented with a rapidly progressive course, predominantly affecting the lower motor neurons. A 48-year-old man presented with progressive weakness and muscle atrophy of the left upper and lower limbs, followed by muscle fasciculation and cramping. The clinical features of the patient were clearly suggestive of ALS, and implied a sporadic form with rapid progression, predominantly affecting the lower motor neurons. Sequencing of the SOD1 gene by PCR revealed a missense mutation of G to C (c.37G>C) in exon 1, and amino acid substitution of glycine by arginine (p.Gly13Arg). This is the first case identifying the p.Gly13Arg mutation of SOD1 in the Korean population, and clinical assessments of this patient revealed a different phenotype compared with other cases.

中文翻译：

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携带 SOD1 p.Gly13Arg 突变的患者中散发性 ALS 的快速进展。

肌萎缩侧索硬化症（ALS）是最常见的成人运动神经元疾病，其病理特征是上、下运动神经元进行性丧失。铜/锌超氧化物歧化酶基因 (SOD1) 突变约占家族性 ALS 病例的 20% 和一小部分散发性 ALS (SALS) 病例，并揭示了经过验证的基因型-表型相关性。在此，我们报告了一名 SALS 患者 SOD1 外显子 1 中的 p.Gly13Arg 突变，该患者病程快速进展，主要影响下运动神经元。一名48岁男性出现左上肢和下肢进行性无力和肌肉萎缩，随后出现肌肉束颤和痉挛。患者的临床特征明显提示患有 ALS，并且是一种快速进展的散发型，主要影响下运动神经元。通过 PCR 对 SOD1 基因进行测序，发现外显子 1 中出现 G 错义突变为 C (c.37G>C)，并且甘氨酸被精氨酸取代 (p.Gly13Arg)。这是韩国人群中首例发现 SOD1 p.Gly13Arg 突变的病例，该患者的临床评估显示与其他病例不同的表型。