Genetically confirmed cases, neither linked to TDP-43 nor tau, displayed low plasma EV TDP-43 levels (median sEV TDP-43: 12.7 pg ml−1, IQR [11.3–15.7]), comparable to HC and PSP (HC median sEV TDP-43: 10.41 pg ml−1, IQR [8.50–14.65]; PSP median sEV TDP-43: 10.20 pg ml−1, IQR [8.30–12.35]) (Fig. 5i,j and Supplementary Fig. 19a,b). Here, TARDBP is linked to supranuclear palsy, progressive, 1.