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. 2024 Jan 26;30(2):382–393. doi: 10.1038/s41591-023-02788-5

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© The Author(s) 2024, corrected publication 2024

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Extended Data Fig. 6 — (A) Original sandwich ELISA using Meso Scale Discovery (MSD) system. (B) Elevated cryptic HDGFL2 levels are detected in presymptomatic (n = 34 CSF samples, mean = 665.4, SD = 142.5, p = 0.0009) and symptomatic (n = 54 CSF samples, mean = 758.4, SD = 152.2, p = 3.3x10⁻⁷) C9orf72 mutation carriers compared to controls (n = 10 CSF samples, mean = 451.4, SD = 178.8). Elevated cryptic HDGFL2 levels are not found in the small cohort of sporadic ALS (n = 6 CSF samples, mean = 513.0, SD = 154.7, p = 0.86). The box extends from the 25^th to the 75^th percentile, with the middle line at the median. The whiskers extend from the minimum to the maximum. Analysis performed with one-way ANOVA with Tukey’s multiple comparisons test. *: p ≤ 0.05, **: p ≤ 0.01, ***: p ≤ 0.001, ****: p ≤ 0.0001. (C) Cryptic HDGFL2 detection by our MSD assay in CSF of C9orf72 mutation carriers diagnosed with ALS, FTD, or ALS-FTD tends to be higher during the earlier stage of symptomatic disease. Pearson correlation (two-tailed), r = −0.30, p = 0.027.