TARDBP and Motor neuron atrophy: Of the gene-targeted mutations into Tardbp: a Q331K mutation [31] has cognitive dysfunction and gives new insight into TDP-43 autoregulation, and potentially into the link between ALS and FTD [32]; homozygous M337V and G298S mutations affect neuromuscular junctions and produce spinal cord gliosis at late stages, without frank neurodegeneration [33]; an N390D mutation is reported to have a full spectrum of TDP-43 pathology including TDP-43 aggregation and motor neuron degeneration in heterozygotes [34].