SQSTM1 mutations were firstly identified as causative of Paget Disease of Bone (PDB; Laurin et al., 2002), and afterwards this gene was disclosed to be also causative of ALS (Fecto et al., 2011) and FTD (Le Ber et al., 2013). The gene discussed is SQSTM1; the disease is amyotrophic lateral sclerosis.