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Article History

Received: 27 March 2025

Accepted: 13 October 2025

First Online: 1 December 2025

Declarations

:

: Written informed consent for participation and publication were provided by all participants and the study was conducted in agreement with the Helsinki Declaration. The ethical approvals for collection and analyses in the APP p.I718M family, including “GEDOC” (dnr 2011/1987-31/4) and the “Genetic and biochemical analysis of human tissue for neurodegenerative disease and their phenotype (AD-registret)” (dnr 2017-834-31-1), were approved by the Regional Ethical Review Board in Stockholm, Sweden. The Swedish Familial Alzheimer Disease (FAD) study was approved by the Regional Ethical Review Board in Stockholm (dnr 2006/901 − 31/3) and the Swedish Ethical Review Authority (addendum dnr 2022-06565-02).

: Written informed consent for participation and publication were provided by all participants. An additional written informed consent for detailed case reports presented in the Supplementary Material were obtained from participants themselves or next-of-kin.

: CG, CJ, AU, ERV, VJ, HT, IN and MB report no competing interests. AN has received honoraria for lectures from Hoffman-La Roche, Astra Zeneca, consulting fees from Lundbeck AG, AVVA pharmaceuticals and has served in an advisory board for NSN Therapeutics. HZ has served at scientific advisory boards and/or as a consultant for Abbvie, Acumen, Alector, Alzinova, ALZpath, Amylyx, Annexon, Apellis, Artery Therapeutics, AZTherapies, Cognito Therapeutics, CogRx, Denali, Eisai, Enigma, LabCorp, Merry Life, Nervgen, Novo Nordisk, Optoceutics, Passage Bio, Pinteon Therapeutics, Prothena, Quanterix, Red Abbey Labs, reMYND, Roche, Samumed, Siemens Healthineers, Triplet Therapeutics, and Wave, has given lectures sponsored by Alzecure, BioArctic, Biogen, Cellectricon, Fujirebio, Lilly, Novo Nordisk, Roche, and WebMD. KB has served as a consultant and at advisory boards for Abbvie, AC Immune, ALZPath, AriBio, Beckman-Coulter, BioArctic, Biogen, Eisai, Lilly, Moleac Pte. Ltd, Neurimmune, Novartis, Ono Pharma, Prothena, Quanterix, Roche Diagnostics, Sanofi and Siemens Healthineers; has served at data monitoring committees for Julius Clinical and Novartis; has given lectures, produced educational materials and participated in educational programs for AC Immune, Biogen, Celdara Medical, Eisai and Roche Diagnostics. HZ and KB are co-founders of Brain Biomarker Solutions in Gothenburg AB (BBS), which is a part of the GU Ventures Incubator Program, outside the work presented in this paper.