Since the identification of TDP‐43 as the main component of ubiquitinated protein aggregates in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD), more than 40 TDP‐43 mutations have been identified in ALS and FTLD patients immunoreactive to TDP‐43 pathology (reviewed in [24, 161, 162]. This evidence concerns the gene TARDBP and amyotrophic lateral sclerosis.