Home > Publications Database > The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset. > print

001     279512
005     20250720001601.0
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024 7 _ |a 1460-2156
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024 7 _ |a 10.1093/brain/awaf038
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037 _ _ |a DZNE-2025-00839
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Liu, Haiyan
|0 0000-0002-3154-8285
|b 0
245 _ _ |a The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
260 _ _ |a Oxford
|c 2025
|b Oxford Univ. Press
336 7 _ |a article
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520 _ _ |a 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 Inherited Alzheimer Network (DIAN), literature and public databases. Symptomatic age at onset (AAO) data were estimated for 227 of these variants, allowing detailed characterization of their frequency, pathogenicity and AAO. Importantly, 226 variants met eligibility criteria for inclusion in disease-modifying clinical trials. Furthermore, we demonstrated the predictive value of mean variant AAO and parental AAO in predicting symptomatic AAO, validated against converters who became symptomatic during follow-up in the DIAN Observational Study. This dataset provides critical insights into the global landscape of ADAD and reveals the genetic and AAO heterogeneity of ADAD variants while refining variant trial eligibility criteria.
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650 _ 7 |a amyloid precursor protein
|2 Other
650 _ 7 |a pathogenicity
|2 Other
650 _ 7 |a presenilin-1
|2 Other
650 _ 7 |a presenilin-2
|2 Other
650 _ 7 |a prevalence
|2 Other
650 _ 7 |a Presenilin-1
|2 NLM Chemicals
650 _ 7 |a Presenilin-2
|2 NLM Chemicals
650 _ 7 |a PSEN1 protein, human
|2 NLM Chemicals
650 _ 7 |a PSEN2 protein, human
|2 NLM Chemicals
650 _ 7 |a Amyloid beta-Protein Precursor
|2 NLM Chemicals
650 _ 7 |a APP protein, human
|2 NLM Chemicals
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Alzheimer Disease: genetics
|2 MeSH
650 _ 2 |a Alzheimer Disease: epidemiology
|2 MeSH
650 _ 2 |a Age of Onset
|2 MeSH
650 _ 2 |a Presenilin-1: genetics
|2 MeSH
650 _ 2 |a Presenilin-2: genetics
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Amyloid beta-Protein Precursor: genetics
|2 MeSH
650 _ 2 |a Middle Aged
|2 MeSH
650 _ 2 |a Aged
|2 MeSH
650 _ 2 |a Mutation
|2 MeSH
650 _ 2 |a Genetic Variation
|2 MeSH
700 1 _ |a Marsh, Thomas W
|b 1
700 1 _ |a Shi, Xinyu
|b 2
700 1 _ |a Renton, Alan E
|b 3
700 1 _ |a Bowling, Kevin M
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700 1 _ |a Ziegemeier, Ellen
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700 1 _ |a Wang, Guoqiao
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700 1 _ |a Cao, Yuchen
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700 1 _ |a Aristel, Alisha
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700 1 _ |a Li, Jessie
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700 1 _ |a Perrin, Richard J
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700 1 _ |a Goate, Alison M
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700 1 _ |a Fernández, Victoria
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700 1 _ |a Day, Gregory S
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700 1 _ |a Doering, Michelle
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700 1 _ |a Daniels, Alisha
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700 1 _ |a Gordon, Brian A
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700 1 _ |a Benzinger, Tammie L S
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700 1 _ |a Hassenstab, Jason
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700 1 _ |a Ibanez, Laura
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700 1 _ |a Supnet-Bell, Charlene
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700 1 _ |a Vöglein, Jonathan
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700 1 _ |a Noble, James M
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700 1 _ |a Roh, Jee Hoon
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700 1 _ |a Jucker, Mathias
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700 1 _ |a Laske, Christoph
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700 1 _ |a Ikeuchi, Takeshi
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700 1 _ |a Sanchez-Valle, Raquel
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700 1 _ |a Schofield, Peter R
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700 1 _ |a Mendez, Patricio Chrem
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700 1 _ |a Chhatwal, Jasmeer P
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700 1 _ |a Farlow, Martin
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700 1 _ |a Lee, Jae-Hong
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700 1 _ |a Levey, Allan I
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700 1 _ |a Levin, Johannes
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700 1 _ |a Lopera, Francisco
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700 1 _ |a Martins, Ralph
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700 1 _ |a Niimi, Yoshiki
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700 1 _ |a Rosa-Neto, Pedro
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700 1 _ |a Morris, John C
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700 1 _ |a Bateman, Randall J
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700 1 _ |a Karch, Celeste M
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700 1 _ |a Cruchaga, Carlos
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700 1 _ |a McDade, Eric
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700 1 _ |a Llibre-Guerra, Jorge J
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773 _ _ |a 10.1093/brain/awaf038
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