Functional variations in gamma-secretase activity are critical determinants of the clinical, biomarker, and cognitive progression of autosomal dominant Alzheimer's disease
Stephanie A. Schultz, Lei Liu, Aaron P. Schultz, Colleen D. Fitzpatrick, Raina Levin, Jean‐Pierre Bellier, Zahra Shirzadi, Nelly Joseph‐Mathurin, Charles D. Chen, Tammie L.S. Benzinger, Gregory Scott Day, Martin Rhys Farlow, Brian Andrew Gordon, Jason J. Hassenstab, Clifford R. Jack, , Dominantly Inherited Alzheimer Network Investigators
The paper quantifies Aβ production from PSEN1 variants and links it to clinical and biomarker progression in ADAD, showing strong associations with disease trajectories.
bioRxiv · Jul 4, 2023 · PreprintNeuroscience