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@ARTICLE{Liu:279512,
      author       = {Liu, Haiyan and Marsh, Thomas W and Shi, Xinyu and Renton,
                      Alan E and Bowling, Kevin M and Ziegemeier, Ellen and Wang,
                      Guoqiao and Cao, Yuchen and Aristel, Alisha and Li, Jessie
                      and Dickson, Alexa and Perrin, Richard J and Goate, Alison M
                      and Fernández, Victoria and Day, Gregory S and Doering,
                      Michelle and Daniels, Alisha and Gordon, Brian A and
                      Benzinger, Tammie L S and Hassenstab, Jason and Ibanez,
                      Laura and Supnet-Bell, Charlene and Xiong, Chengjie and
                      Allegri, Ricardo and Berman, Sarah B and Fox, Nick C and
                      Ryan, Natalie S and Huey, Edward D and Vöglein, Jonathan
                      and Noble, James M and Roh, Jee Hoon and Jucker, Mathias and
                      Laske, Christoph and Ikeuchi, Takeshi and Sanchez-Valle,
                      Raquel and Schofield, Peter R and Mendez, Patricio Chrem and
                      Chhatwal, Jasmeer P and Farlow, Martin and Lee, Jae-Hong and
                      Levey, Allan I and Levin, Johannes and Lopera, Francisco and
                      Martins, Ralph and Niimi, Yoshiki and Rosa-Neto, Pedro and
                      Morris, John C and Bateman, Randall J and Karch, Celeste M
                      and Cruchaga, Carlos and McDade, Eric and Llibre-Guerra,
                      Jorge J},
      title        = {{T}he landscape of autosomal-dominant {A}lzheimer's
                      disease: global distribution and age of onset.},
      journal      = {Brain},
      volume       = {148},
      number       = {7},
      issn         = {0006-8950},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DZNE-2025-00839},
      pages        = {2429 - 2440},
      year         = {2025},
      abstract     = {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.},
      keywords     = {Humans / Alzheimer Disease: genetics / Alzheimer Disease:
                      epidemiology / Age of Onset / Presenilin-1: genetics /
                      Presenilin-2: genetics / Male / Female / Amyloid
                      beta-Protein Precursor: genetics / Middle Aged / Aged /
                      Mutation / Genetic Variation / amyloid precursor protein
                      (Other) / pathogenicity (Other) / presenilin-1 (Other) /
                      presenilin-2 (Other) / prevalence (Other) / Presenilin-1
                      (NLM Chemicals) / Presenilin-2 (NLM Chemicals) / PSEN1
                      protein, human (NLM Chemicals) / PSEN2 protein, human (NLM
                      Chemicals) / Amyloid beta-Protein Precursor (NLM Chemicals)
                      / APP protein, human (NLM Chemicals)},
      cin          = {Clinical Research (Munich) / AG Jucker / AG Gasser / AG
                      Levin},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015 / I:(DE-2719)1210001 /
                      I:(DE-2719)1210000 / I:(DE-2719)1111016},
      pnm          = {353 - Clinical and Health Care Research (POF4-353) / 352 -
                      Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39903689},
      pmc          = {pmc:PMC12233549},
      doi          = {10.1093/brain/awaf038},
      url          = {https://pub.dzne.de/record/279512},
}