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. 2023 Aug 7;29(8):1979–1988. doi: 10.1038/s41591-023-02476-4

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — Differences between ADAD mutation carriers and noncarriers in levels of CSF biomarker proteins, imaging measures and cognitive function were modeled across the disease course by EYO. Heat represents significant differences between mutation carriers and noncarriers, with the color threshold set at the 99% credible interval (red, increased in carriers; blue, decreased in carriers). All CSF proteins were measured by MS except for PGRN, c-sTREM2 and NEFL, which were measured by ELISA as previously described^20,38,68. Aβ42/40 ratio was measured by the Fujirebio Lumipulse ELISA assay. Additional biomarker measurements are provided in Extended Data Fig. 1. Biomarker measurements available in DIAN used to benchmark the targeted proteomic measurements are shown in gray italics. CSF proteins were mapped to the corresponding AD brain coexpression module as described in ref. ⁸. Unmapped proteins were not measured in brain. Targeted proteins are listed by their gene symbols. UniProt accessions for each targeted protein are provided in Supplementary Table 2. ALDOA, fructose-bisphosphate aldolase A; CALM2, calmodulin-2; ENO1, alpha-enolase; ENO2, gamma-enolase; FDG-PET precuneus, FDG-PET precuneus signal; GAPDH, glyceraldehyde-3-phosphate dehydrogenase; GDA, guanine deaminase; GDI1, rab GDP dissociation inhibitor alpha; GMFB, glia maturation factor beta; GOT1, aspartate aminotransferase; ITGB2, integrin beta-2; LDHB, l-lactate dehydrogenase B chain; LDHC, l-lactate dehydrogenase C chain; MDH1, malate dehydrogenase, cytoplasmic; MFGE8, lactadherin; NPTXR, neuronal pentraxin receptor; NPTX2, neuronal pentraxin-2; PARK7, parkinson disease protein 7; PEBP1, phosphatidylethanolamine-binding protein 1; PGAM1, phosphoglycerate mutase 1; PKM, pyruvate kinase; PKM2, pyruvate kinase 2; PIB-PET Cortex, PIB-PET total cortex signal; PPIA, peptidyl-prolyl cis–trans isomerase A; SCG2, secretogranin-2; t-Tau, tau peptide 181–190, a marker of total tau levels; THY1, thy1 membrane glycoprotein; TPI1, triosephosphate isomerase; VGF, neurosecretory protein VGF; YWHAB, 14-3-3 protein beta; YWHAG, 14-3-3 protein gamma; YWHAZ, 14-3-3 protein zeta.