Article
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Brain : a journal of neurology - 7 Jul 2025
Liu Haiyan, Marsh Thomas W, Shi Xinyu, Renton Alan E, Bowling Kevin M, Ziegemeier Ellen, Wang Guoqiao, Cao Yuchen, Aristel Alisha, Li Jessie, Dickson Alexa, Perrin Richard J, Goate Alison M, Fernández Victoria, Day Gregory S, Doering Michelle, Daniels Alisha, Gordon Brian A, Benzinger Tammie L S, Hassenstab Jason, Ibanez Laura, Supnet-Bell Charlene, Xiong Chengjie, Allegri Ricardo, Berman Sarah B, Fox Nick C, Ryan Natalie S, Huey Edward D, Vöglein Jonathan, Noble James M, Roh Jee Hoon, Jucker Mathias, Laske Christoph, Ikeuchi Takeshi, Sanchez-Valle Raquel, Schofield Peter R, Mendez Patricio Chrem, Chhatwal Jasmeer P, Farlow Martin, Lee Jae-Hong, Levey Allan I, Levin Johannes, Lopera Francisco, Martins Ralph, Niimi Yoshiki, Rosa-Neto Pedro, Morris John C, Bateman Randall J, Karch Celeste M, Cruchaga Carlos, McDade Eric, Llibre-Guerra Jorge J
Abstract excerpt
We present a comprehensive global analysis of genetic variants associated with autosomal-dominant Alzheimer's disease (ADAD). A total of 550 variants in the APP, PSEN1 and PSEN2 genes were identified, of which 279 were classified as pathogenic or likely pathogenic based on American College of Medical Genetics and Genomics and the Association for Molecular Pathology criteria, utilizing data from the Dominantly...
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