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. 2023 May 15;29(5):1243–1252. doi: 10.1038/s41591-023-02318-3

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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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Extended Data Fig. 1 — This analysis confirmed that compared to other PSEN1 E280A carriers who developed MCI at younger ages, the RELN-COLBOS carrier had relatively spared tau PET signal in the medial temporal lobe (entorhinal cortex / parahippocampal gyrus), but not in other areas including temporal neocortex. a, Cortical surface projection of vertex-wise tau PET (Flortaucipir, FTP) standardized uptake value ratio (SUVr) in the RELN-COLBOS carrier. b, Mean tau PET image of typical MCI PSEN1 E280A carriers (n = 7). c, difference analysis between images (b) and (a): negative values indicate areas where RELN-COLBOS carrier had higher tau PET signal compared to other carriers, and vice-versa. d, T-value for one-sample 2-sided t-tests comparing other PSEN1 E280A carriers to the RELN-COLBOS patient. Directionality of effect size is the same as (c). Panel e shows T-values as in (d) masked by p value < 0.05 (uncorrected). f, Inferior / close-up view of surfaces shown in (e).