A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was applied to detect the G₄C₂ repeats expansions. In the studied sALS patients, 5.06% (n = 9) carried the C9orf72 mutation. Among carriers, 2/3 of them were females and spinal onset accounted for 78% and bulbar for 22%, while the mean age of onset was about 60 years. Our study showed that the prevalence of C9orf72 repeat expansion in Greek sALS patients is similar to the overall frequency of the mutation in European populations. The pathogenic mutation remains a promising biomarker for genetic testing and targeted treatment.

经过完整的临床评估后，总共178例连续的sALS明确患者没有额颞叶痴呆（FTD）。应用重复灌注聚合酶链反应（RP-PCR）方案检测G ₄ C ₂重复序列的扩增。在研究的sALS患者中，5.06％（n  = 9）携带C9orf72突变。在携带者中，其中2/3为女性，脊柱发病占78％，延髓占22％，平均发病年龄约为60岁。我们的研究表明C9orf72的患病率希腊sALS患者的重复扩增与欧洲人群中突变的总体频率相似。致病性突变仍然是用于基因测试和靶向治疗的有前途的生物标记。