TARDBP and amyotrophic lateral sclerosis: TDP-43 pathology cases mapped to the TDP-43 high bvFTD (putative FTLD-TDP) and the ALS group, and were detected among all individuals with a genetically or neuropathologically proven diagnosis with a sensitivity of 88.00%, CI [76.13–95.67%] and a specificity of 100%, CI [75.29–100%] using the cut-off for at least mildly increased TDP-43 levels (>13.87 pg ml−1) (Fig. 4b).