Article
Location of pathogenic variants in PSEN1 impacts progression of cognitive, clinical, and neurodegenerative measures in autosomal-dominant Alzheimer's disease.
Aging cell - 1 Aug 2023
Schultz Stephanie A, Shirzadi Zahra, Schultz Aaron P, Liu Lei, Fitzpatrick Colleen D, McDade Eric, Barthelemy Nicolas R, Renton Alan, Esposito Bianca, Joseph-Mathurin Nelly, Cruchaga Carlos, Chen Charles D, Goate Alison, Allegri Ricardo Francisco, Benzinger Tammie L S, Berman Sarah, Chui Helena C, Fagan Anne M, Farlow Martin R, Fox Nick C, Gordon Brian A, Day Gregory S, Graff-Radford Neill R, Hassenstab Jason J, Hanseeuw Bernard J, Hofmann Anna, Jack Clifford R, Jucker Mathias, Karch Celeste M, Koeppe Robert A, Lee Jae-Hong, Levey Allan I, Levin Johannes, Martins Ralph N, Mori Hiroshi, Morris John C, Noble James, Perrin Richard J, Rosa-Neto Pedro, Salloway Stephen P, Sanchez-Valle Raquel, Schofield Peter R, Xiong Chengjie, Johnson Keith A, Bateman Randall J, Sperling Reisa A, Chhatwal Jasmeer P
Abstract excerpt
Although pathogenic variants in PSEN1 leading to autosomal-dominant Alzheimer disease (ADAD) are highly penetrant, substantial interindividual variability in the rates of cognitive decline and biomarker change are observed in ADAD. We hypothesized that this interindividual variability may be associated with the location of the pathogenic variant within PSEN1. PSEN1 pathogenic variant carriers participating in the...
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