C9ORF72 gene mutation consisting in a hexanucleotide expansion of the sequence GGGGCC (G4C2) present in the first intron has been associated to ALS and FTD in 2011 (Renton et al. 2011; DeJesus-Hernandez et al. 2011). This evidence concerns the gene C9orf72 and amyotrophic lateral sclerosis.