Mutations observed in several genes related to ALS such as SOD1(Rosen et al., 1993), FUS (Kwiatkowski et al., 2009), C9ORF72 (DeJesus-Hernandez et al., 2011, Renton et al., 2011), ATXN2 (Elden et al., 2010), OPTN (Maruyama et al., 2010), VCP (Johnson et al., 2010), PFN1 (Wu et al., 2012), MATR3 (Johnson et al., 2014), SETX (Hirano et al., 2011), UBQLN2 (Deng et al., 2011). The gene discussed is OPTN; the disease is amyotrophic lateral sclerosis.