Mutations in several genes including ALS2, SIGMAR1, SPG11, SETX, SOD1, UBQLN2, TARDB, BICD2, DDHD1, FUS, CLEC4C, ERLIN1 and SYNE1 were described to cause JALS [1–3, 6, 7]. The gene discussed is SETX; the disease is juvenile amyotrophic lateral sclerosis.