After decades of research, it is now recognized that a pathogenic hexanucleotide repeat expansion (HRE) intronic to chromosome 9 open reading frame 72 (C9orf72) is the most common genetic cause of ALS, FTD, and ALS combined with FTD (ALS-FTD) (DeJesus-Hernandez et al., 2011; Renton et al., 2011). This evidence concerns the gene C9orf72 and amyotrophic lateral sclerosis.