TARDBP and amyotrophic lateral sclerosis: Further histological studies have since confirmed that TDP-43 is present in the cytoplasmic aggregates of the majority of ALS patients including sporadic cases without pathogenic variants in the TARDBP gene, and in those with C9ORF72 hexanucleotide repeat expansions (Giordana et al., 2010; Schipper et al., 2016; Takeuchi et al., 2016).