Variants previously reported as pathogenic or likely pathogenic were identified in patients with motor neuron disease (FUS p.Gly144_Tyr149del, DCTN1 p.Arg997Trp, OPTN p. Gln314Leu and c.1401 + 4A > G, SQSTM1 p.Pro392Leu) and amyotrophic lateral sclerosis (ALS)-Charcot-Marie-Tooth disease type 4 (FIG4 p.Gln823Ter). The gene discussed is FIG4; the disease is Charcot-Marie-Tooth disease type 4.