Figure 2.

Baseline plasma NfL is elevated in presymptomatic mutation carriers and all symptomatic groups

(A) Comparison of baseline plasma NfL between healthy controls or presymptomatic mutation carriers and symptomatic groups.

(B) Comparison of baseline NfL between presymptomatic carriers who phenoconverted and controls or presymptomatic carriers who remained asymptomatic for at least 1 year.

(C) Comparison of baseline NfL between controls or presymptomatic carriers and patients in symptomatic groups with a CDR + NACC-FTLD global score of 0 or 0.5.

(D) Heatmap showing AUCs comparing controls to the indicated groups that include all individuals of a given group (all subjects) or only those with an CDR + NACC-FTLD global score of 0 or 0.5 (mildly impaired) from unadjusted or age- and gender-adjusted analyses.

(E) Comparison of baseline plasma NfL between non-mutation carriers and mutation carriers for clinically normal individuals and patients with bvFTD or MCI. Data in (E) do not include the two presymptomatic carriers with a mutation in both C9orf72 and GRN. p values are from analysis adjusted for age and gender.

∗∗∗p < 0.001 and ∗∗p < 0.01, comparison to controls; ^###p < 0.001 and ^##p = 0.003, comparison to presymptomatic carriers; ^ǂǂǂp < 0.001, comparison with presymptomatic non-converters. Horizontal bars represent median NfL concentrations. NfL in plasma samples was measured in duplicate, and the mean concentration of replicates is shown on the base 10 logarithm scale. See Figures S1D and S1E to view NfL concentrations on the linear scale. Relating to (A)–(D), see also Tables S3–S7. Relating to (E), see also Tables S8 and S9. The number of individuals per group (n) is shown in figure panels and in Tables 1 and S1.