Pathogenic mutations in genes encoding Cu/Zn-superoxide dismutase 1 (SOD1), chromosome 9 open reading frame 72 (C9orf72), optineurin (OPTN), p97/valosin-containing protein (VCP), TAR DNA-binding protein (TDP-43), fused in sarcoma (FUS), Ewing sarcomabreakpoint region 1 (EWSR1), and TATA box-binding protein-associated factor 15 (TAF15), have been linked to the sporadic and familial forms of ALS [5,6,7,8,9]. The gene discussed is OPTN; the disease is amyotrophic lateral sclerosis.