The C9orf72 mutation appears to drive the pathogenesis of ALS through the loss of normal function of C9orf72 and the acquisition of toxic effects caused by the repeated amplification (Vant Spijker and Almeida, 2023), which leads to the RNA amplification, the dipeptide repeat proteins aggregation and the C9orf72 haploid dysfunction. Here, C9orf72 is linked to amyotrophic lateral sclerosis.