Familial Alzheimer's disease: site of mutation influences clinical phenotype - PubMed (original) (raw)

Location of pathogenic variants in PSEN1 impacts progression of cognitive, clinical, and neurodegenerative measures in autosomal-dominant Alzheimer's disease.

Schultz SA, Shirzadi Z, Schultz AP, Liu L, Fitzpatrick CD, McDade E, Barthelemy NR, Renton A, Esposito B, Joseph-Mathurin N, Cruchaga C, Chen CD, Goate A, Allegri RF, Benzinger TLS, Berman S, Chui HC, Fagan AM, Farlow MR, Fox NC, Gordon BA, Day GS, Graff-Radford NR, Hassenstab JJ, Hanseeuw BJ, Hofmann A, Jack CR Jr, Jucker M, Karch CM, Koeppe RA, Lee JH, Levey AI, Levin J, Martins RN, Mori H, Morris JC, Noble J, Perrin RJ, Rosa-Neto P, Salloway SP, Sanchez-Valle R, Schofield PR, Xiong C, Johnson KA, Bateman RJ, Sperling RA, Chhatwal JP; Dominantly Inherited Alzheimer Network Investigators. Schultz SA, et al. Aging Cell. 2023 Aug;22(8):e13871. doi: 10.1111/acel.13871. Epub 2023 Jun 8. Aging Cell. 2023. PMID: 37291760 Free PMC article.

Early pathogenic event of Alzheimer's disease documented in iPSCs from patients with PSEN1 mutations.

Yang J, Zhao H, Ma Y, Shi G, Song J, Tang Y, Li S, Li T, Liu N, Tang F, Gu J, Zhang L, Zhang Z, Zhang X, Jin Y, Le W. Yang J, et al. Oncotarget. 2017 Jan 31;8(5):7900-7913. doi: 10.18632/oncotarget.13776. Oncotarget. 2017. PMID: 27926491 Free PMC article.