Specifically, in three patients (two with pure ALS and one with FTD-ALS) we found causative variants in the TARDBP gene, namely the p.Met337Val (c.1009A>G), the p.Asn352Ser (c.1055A>G) and the p.Ile383Val (c.1147A>G) variant. The gene discussed is TARDBP; the disease is amyotrophic lateral sclerosis.