Autosomal dominant and sporadic late onset Alzheimer's disease share a common <i>in vivo</i> pathophysiology-Reference-Cited by-同舟云学术

Autosomal dominant and sporadic late onset Alzheimer's disease share a common in vivo pathophysiology

Published:2022-05-17 Issue:10 Volume:145 Page:3594-3607
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Morris John C¹^ORCID,Weiner Michael²,Xiong Chengjie³^ORCID,Beckett Laurel⁴,Coble Dean³,Saito Naomi⁴,Aisen Paul S⁵,Allegri Ricardo⁶,Benzinger Tammie L S⁷,Berman Sarah B⁸,Cairns Nigel J⁹,Carrillo Maria C¹⁰,Chui Helena C⁵,Chhatwal Jasmeer P¹¹,Cruchaga Carlos¹²,Fagan Anne M¹,Farlow Martin¹³,Fox Nick C¹⁴,Ghetti Bernardino¹⁵,Goate Alison M¹⁶,Gordon Brian A⁷^ORCID,Graff-Radford Neill¹⁷,Day Gregory S¹⁷,Hassenstab Jason¹,Ikeuchi Takeshi¹⁸^ORCID,Jack Clifford R¹⁹^ORCID,Jagust William J²⁰^ORCID,Jucker Mathias²¹²²,Levin Johannes²³,Massoumzadeh Parinaz⁷,Masters Colin L²⁴^ORCID,Martins Ralph²⁵,McDade Eric¹,Mori Hiroshi²⁶,Noble James M²⁷,Petersen Ronald C²⁸,Ringman John M⁵,Salloway Stephen²⁹,Saykin Andrew J³⁰,Schofield Peter R³¹,Shaw Leslie M³²,Toga Arthur W³³,Trojanowski John Q³⁴,Vöglein Jonathan³⁵^ORCID,Weninger Stacie³⁶,Bateman Randall J¹,Buckles Virginia D¹

Affiliation:

1. Department of Neurology, Washington University School of Medicine , St. Louis, MO , USA

2. Department of Radiology, University of California at San Francisco , San Francisco, CA , USA

3. Division of Biostatistics, Washington University School of Medicine , St. Louis, MO , USA

4. Department of Public Health Sciences, School of Medicine, University of California; Davis , Davis, CA , USA

5. Department of Neurology, Keck School of Medicine, University of Southern California , Los Angeles, CA , USA

6. Department of Cognitive Neurology, Neuropsychology and Neuropsychiatry, Institute for Neurological Research (FLENI) , Buenos Aires , Argentina

7. Department of Radiology, Washington University School of Medicine , St. Louis, MO , USA

8. Department of Neurology and Clinical and Translational Science, University of Pittsburgh , Pittsburgh, PA , USA

9. College of Medicine and Health and the Living Systems Institute, University of Exeter , Exeter , UK

10. Alzheimer’s Association , Chicago, IL , USA

11. Department of Neurology, Massachusetts General Hospital , Boston, MA , USA

12. Department of Psychiatry, Washington University School of Medicine , St. Louis, MO , USA

13. Department of Neurology, Indiana University School of Medicine , Indianapolis, IN , USA

14. Department of Neurodegenerative Disease and UK Dementia Research Institute, UCL Institute of Neurology , London , UK

15. Department of Pathology and Laboratory Medicine, Indiana University School of Medicine , Indianapolis, IN , USA

16. Ronald M. Loeb Center for Alzheimer’s Disease, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai , New York, NY , USA

17. Department of Neurology, Mayo Clinic , Jacksonville, FL , USA

18. Department of Molecular Genetics, Brain Research Institute, Niigata University , Niigata , Japan

19. Department of Radiology, Mayo Clinic , Rochester, MN , USA

20. Helen Wills Neuroscience Institute, University of California , Berkeley, CA , USA

21. Cell Biology of Neurological Diseases Group, German Center for Neurodegenerative Diseases (DZNE) , Tübingen , Germany

22. Hertie Institute for Clinical Brain Research, University of Tübingen , Tübingen , Germany

23. DZNE Munich, Munich Cluster of Systems Neurology (SyNergy) and Ludwig-Maximilians-Universität , Munich , Germany

24. Florey Institute, University of Melbourne , Melbourne , Australia

25. Sir James McCusker Alzheimer’s Disease Research Unit, Edith Cowan University , Nedlands , Australia

26. Department of Neuroscience, Osaka City University Medical School , Osaka City , Japan

27. Department of Neurology, Taub Institute for Research on Aging Brain, Columbia University Irving Medical Center , New York, NY , USA

28. Department of Neurology, Mayo Clinic , Rochester, MN , USA

29. Department of Neurology, Butler Hospital and Alpert Medical School of Brown University , Providence, RI, 02906 , USA

30. Department of Radiology and Imaging Sciences and the Indiana Alzheimer’s Disease Research Center, Indiana University School of Medicine , Indianapolis, IN , USA

31. Neuroscience Research Australia and School of Medical Sciences, University of New South Wales , Sydney , Australia

32. Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA , USA

33. Laboratory of Neuro Imaging, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California , Los Angeles, CA , USA

34. Center for Neurodegenerative Disease Research, Institute on Aging, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA , USA

35. German Center for Neurodegenerative Diseases (DZNE) and Department of Neurology, Ludwig-Maximilians-Universität München , Munich , Germany

36. FBRI , Cambridge, MA , USA

Abstract

Abstract The extent to which the pathophysiology of autosomal dominant Alzheimer's disease corresponds to the pathophysiology of ‘sporadic’ late onset Alzheimer's disease is unknown, thus limiting the extrapolation of study findings and clinical trial results in autosomal dominant Alzheimer's disease to late onset Alzheimer's disease. We compared brain MRI and amyloid PET data, as well as CSF concentrations of amyloid-β42, amyloid-β40, tau and tau phosphorylated at position 181, in 292 carriers of pathogenic variants for Alzheimer's disease from the Dominantly Inherited Alzheimer Network, with corresponding data from 559 participants from the Alzheimer’s Disease Neuroimaging Initiative. Imaging data and CSF samples were reprocessed as appropriate to guarantee uniform pipelines and assays. Data analyses yielded rates of change before and after symptomatic onset of Alzheimer's disease, allowing the alignment of the ∼30-year age difference between the cohorts on a clinically meaningful anchor point, namely the participant age at symptomatic onset. Biomarker profiles were similar for both autosomal dominant Alzheimer's disease and late onset Alzheimer's disease. Both groups demonstrated accelerated rates of decline in cognitive performance and in regional brain volume loss after symptomatic onset. Although amyloid burden accumulation as determined by PET was greater after symptomatic onset in autosomal dominant Alzheimer's disease than in late onset Alzheimer's disease participants, CSF assays of amyloid-β42, amyloid-β40, tau and p-tau181 were largely overlapping in both groups. Rates of change in cognitive performance and hippocampal volume loss after symptomatic onset were more aggressive for autosomal dominant Alzheimer's disease participants. These findings suggest a similar pathophysiology of autosomal dominant Alzheimer's disease and late onset Alzheimer's disease, supporting a shared pathobiological construct.

Funder

Alzheimer’s Association

Dominantly Inherited Alzheimer Network

National Institute on Aging

German Center for Neurodegenerative Diseases

Institute for Neurological Research

Japan Agency for Medical Research and Development

NIHR

UCL/UCLH

Biomedical Research Centre

Dementias Platform UK

NIH

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awac181/45410031/awac181.pdf

Reference84 articles.

1. A presenilin 1 mutation in the first case of Alzheimer’s disease;Muller;Lancet Neurol,2013

2. A presenilin 1 mutation in the first case of Alzheimer’s disease: Revisited;Rupp;Alzheimers Dement,2014

3. Alzheimer’s disease: The challenge of the second century;Holtzman;Sci Transl Med,2011

4. Immunization with amyloid-β attenuates Alzheimer-disease-like pathology in the PDAPP mouse;Schenk;Nature,1999

5. The A4 study: Stopping AD before symptoms begin?;Sperling;Sci Transl Med,2014

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