OPTN and amyotrophic lateral sclerosis: The following six mutations of ALS-related genes, all in heterozygosis, of ALS-related genes were detected (one for each patient): OPTN: p.L111R; SETX: p.H476R; CCNF: p.R123H; EWSR1: p.A132S; SETX: p.V919I; DTCN1: p.A354V.