The Sant Pau EV TDP-43 cut-off identified patients with sporadic ALS and ALS–FTD with high sensitivity and specificity versus HC and PSP (ALS sensitivity: 86.15%, CI [75.34–93.47%]; specificity: 100%, CI [96.03–100%]; ALS–FTD sensitivity: 96.55%, CI [88.90–99.58%]; specificity: 100%, CI [96.03–100%]). Here, TARDBP is linked to amyotrophic lateral sclerosis.