We identified two variants in TARDBP that had been previously reported in European populations with diagnosis of ALS [111, 112], and in contrast with these cohorts, Colombian TARDBP c.1147A>G (p.Ile383Val) carriers had significant intra-familial variability with heterogeneous FTLD-MND spectrum disorders (Additional file 1: Figure S28). The gene discussed is TARDBP; the disease is amyotrophic lateral sclerosis.