TARDBP and amyotrophic lateral sclerosis: After initial implication in the pathogenesis of monosymptomatic forms of cystic fibrosis3–7, it has been discovered a direct association between TDP-43 abnormalities and neurodegenerative diseases, and in particular with Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Degeneration (FTD)8,9 was discovered.