Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.
Joseph-Mathurin N, Feldman RL, Lu R, Shirzadi Z, Toomer C, Saint Clair JR, Ma Y, McKay NS, Strain JF, Kilgore C, Friedrichsen KA, Chen CD, Gordon BA, Chen G, Hornbeck RC, Massoumzadeh P, McCullough AA, Wang Q, Li Y, Wang G, Keefe SJ, Schultz SA, Cruchaga C, Preboske GM, Jack CR Jr, Llibre-Guerra JJ, Allegri RF, Ances BM, Berman SB, Brooks WS, Cash DM, Day GS, Fox NC, Fulham M, Ghetti B, Johnson KA, Jucker M, Klunk WE, la Fougère C, Levin J, Niimi Y, Oh H, Perrin RJ, Reischl G, Ringman JM, Saykin AJ, Schofield PR, Su Y, Supnet-Bell C, Vöglein J, Yakushev I, Brickman AM, Morris JC, McDade E, Xiong C, Bateman RJ, Chhatwal JP, Benzinger TLS; Dominantly Inherited Alzheimer Network.
Joseph-Mathurin N, et al.
Alzheimers Dement. 2024 Apr;20(4):2680-2697. doi: 10.1002/alz.13729. Epub 2024 Feb 21.
Alzheimers Dement. 2024.
PMID: 38380882
Free PMC article.
DISCUSSION: We demonstrated the genotypic variability behind spatiotemporal amyloidosis, SVD, and clinical presentation in DIAD, which may inform patient prognosis and clinical trials. HIGHLIGHTS: Mutation position influences Abeta burden, SVD, and dementia. ...
DISCUSSION: We demonstrated the genotypic variability behind spatiotemporal amyloidosis, SVD, and clinical presentation in DIAD, which may i …