Mutations spanning the whole SQSTM1 sequence, including its promoter, have thereafter been related to fALS, sALS, and ALS/FTD (Rubino et al. 2012; Teyssou et al. 2013; Hirano et al. 2013; Shimizu et al. 2013; Le Ber et al. 2013; Chen et al. 2014; Kwok et al. 2014), and in most cases they have been associated with TDP-43 pathology (van der Zee et al. 2014). The gene discussed is SQSTM1; the disease is amyotrophic lateral sclerosis.