Less than 10% of ALS cases are familial ALS (fALS), and ~4% of fALS cases are caused by mutations in the gene encoding TARDBP. Although a small proportion of sporadic ALS and fALS cases are associated with TDP-43 mutations, TDP-43 pathology can be observed in more than 90% of ALS patients14,15,78. The gene discussed is TARDBP; the disease is amyotrophic lateral sclerosis.