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000279512 037__ $$aDZNE-2025-00839
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000279512 1001_ $$00000-0002-3154-8285$$aLiu, Haiyan$$b0
000279512 245__ $$aThe landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
000279512 260__ $$aOxford$$bOxford Univ. Press$$c2025
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000279512 520__ $$aWe present a comprehensive global analysis of genetic variants associated with autosomal-dominant Alzheimer's disease (ADAD). A total of 550 variants in the APP, PSEN1 and PSEN2 genes were identified, of which 279 were classified as pathogenic or likely pathogenic based on American College of Medical Genetics and Genomics and the Association for Molecular Pathology criteria, utilizing data from the Dominantly Inherited Alzheimer Network (DIAN), literature and public databases. Symptomatic age at onset (AAO) data were estimated for 227 of these variants, allowing detailed characterization of their frequency, pathogenicity and AAO. Importantly, 226 variants met eligibility criteria for inclusion in disease-modifying clinical trials. Furthermore, we demonstrated the predictive value of mean variant AAO and parental AAO in predicting symptomatic AAO, validated against converters who became symptomatic during follow-up in the DIAN Observational Study. This dataset provides critical insights into the global landscape of ADAD and reveals the genetic and AAO heterogeneity of ADAD variants while refining variant trial eligibility criteria.
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000279512 650_7 $$2Other$$aamyloid precursor protein
000279512 650_7 $$2Other$$apathogenicity
000279512 650_7 $$2Other$$apresenilin-1
000279512 650_7 $$2Other$$apresenilin-2
000279512 650_7 $$2Other$$aprevalence
000279512 650_7 $$2NLM Chemicals$$aPresenilin-1
000279512 650_7 $$2NLM Chemicals$$aPresenilin-2
000279512 650_7 $$2NLM Chemicals$$aPSEN1 protein, human
000279512 650_7 $$2NLM Chemicals$$aPSEN2 protein, human
000279512 650_7 $$2NLM Chemicals$$aAmyloid beta-Protein Precursor
000279512 650_7 $$2NLM Chemicals$$aAPP protein, human
000279512 650_2 $$2MeSH$$aHumans
000279512 650_2 $$2MeSH$$aAlzheimer Disease: genetics
000279512 650_2 $$2MeSH$$aAlzheimer Disease: epidemiology
000279512 650_2 $$2MeSH$$aAge of Onset
000279512 650_2 $$2MeSH$$aPresenilin-1: genetics
000279512 650_2 $$2MeSH$$aPresenilin-2: genetics
000279512 650_2 $$2MeSH$$aMale
000279512 650_2 $$2MeSH$$aFemale
000279512 650_2 $$2MeSH$$aAmyloid beta-Protein Precursor: genetics
000279512 650_2 $$2MeSH$$aMiddle Aged
000279512 650_2 $$2MeSH$$aAged
000279512 650_2 $$2MeSH$$aMutation
000279512 650_2 $$2MeSH$$aGenetic Variation
000279512 7001_ $$aMarsh, Thomas W$$b1
000279512 7001_ $$aShi, Xinyu$$b2
000279512 7001_ $$aRenton, Alan E$$b3
000279512 7001_ $$aBowling, Kevin M$$b4
000279512 7001_ $$aZiegemeier, Ellen$$b5
000279512 7001_ $$aWang, Guoqiao$$b6
000279512 7001_ $$aCao, Yuchen$$b7
000279512 7001_ $$aAristel, Alisha$$b8
000279512 7001_ $$aLi, Jessie$$b9
000279512 7001_ $$aDickson, Alexa$$b10
000279512 7001_ $$aPerrin, Richard J$$b11
000279512 7001_ $$aGoate, Alison M$$b12
000279512 7001_ $$aFernández, Victoria$$b13
000279512 7001_ $$aDay, Gregory S$$b14
000279512 7001_ $$aDoering, Michelle$$b15
000279512 7001_ $$aDaniels, Alisha$$b16
000279512 7001_ $$00000-0003-2109-2955$$aGordon, Brian A$$b17
000279512 7001_ $$aBenzinger, Tammie L S$$b18
000279512 7001_ $$aHassenstab, Jason$$b19
000279512 7001_ $$00000-0003-2381-7059$$aIbanez, Laura$$b20
000279512 7001_ $$aSupnet-Bell, Charlene$$b21
000279512 7001_ $$aXiong, Chengjie$$b22
000279512 7001_ $$aAllegri, Ricardo$$b23
000279512 7001_ $$aBerman, Sarah B$$b24
000279512 7001_ $$aFox, Nick C$$b25
000279512 7001_ $$aRyan, Natalie S$$b26
000279512 7001_ $$aHuey, Edward D$$b27
000279512 7001_ $$0P:(DE-2719)2811820$$aVöglein, Jonathan$$b28
000279512 7001_ $$aNoble, James M$$b29
000279512 7001_ $$00000-0002-3243-0529$$aRoh, Jee Hoon$$b30
000279512 7001_ $$0P:(DE-2719)2000010$$aJucker, Mathias$$b31$$udzne
000279512 7001_ $$0P:(DE-2719)2000055$$aLaske, Christoph$$b32$$udzne
000279512 7001_ $$00000-0001-8828-8085$$aIkeuchi, Takeshi$$b33
000279512 7001_ $$00000-0001-7750-896X$$aSanchez-Valle, Raquel$$b34
000279512 7001_ $$aSchofield, Peter R$$b35
000279512 7001_ $$aMendez, Patricio Chrem$$b36
000279512 7001_ $$00000-0002-7792-1698$$aChhatwal, Jasmeer P$$b37
000279512 7001_ $$aFarlow, Martin$$b38
000279512 7001_ $$0P:(DE-HGF)0$$aLee, Jae-Hong$$b39
000279512 7001_ $$aLevey, Allan I$$b40
000279512 7001_ $$0P:(DE-2719)2811659$$aLevin, Johannes$$b41
000279512 7001_ $$aLopera, Francisco$$b42
000279512 7001_ $$aMartins, Ralph$$b43
000279512 7001_ $$aNiimi, Yoshiki$$b44
000279512 7001_ $$00000-0001-9116-1376$$aRosa-Neto, Pedro$$b45
000279512 7001_ $$00000-0003-2967-9662$$aMorris, John C$$b46
000279512 7001_ $$00000-0002-7729-1702$$aBateman, Randall J$$b47
000279512 7001_ $$aKarch, Celeste M$$b48
000279512 7001_ $$00000-0002-5261-689X$$aCruchaga, Carlos$$b49
000279512 7001_ $$aMcDade, Eric$$b50
000279512 7001_ $$aLlibre-Guerra, Jorge J$$b51
000279512 773__ $$0PERI:(DE-600)1474117-9$$a10.1093/brain/awaf038$$gVol. 148, no. 7$$n7$$p2429 - 2440$$tBrain$$v148$$x0006-8950$$y2025
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