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Record W4385639069 · doi:10.1038/s41591-023-02476-4

Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer’s disease

2023· article· en· W4385639069 on OpenAlexafffund
Erik C. B. Johnson, Shijia Bian, Rafi U. Haque, Kathleen Carter, Caroline M Watson, Brian A. Gordon, Lingyan Ping, Duc M. Duong, Michael P. Epstein, Eric McDade, Nicolas R. Barthélemy, Celeste M. Karch, Chengjie Xiong, Carlos Cruchaga, Richard J. Perrin, Aliza P. Wingo, Thomas S. Wingo, Jasmeer P. Chhatwal, Gregory S. Day, James M. Noble, Sarah Berman, Ralph N. Martins, Neill R. Graff‐Radford, Peter R. Schofield, Takeshi Ikeuchi, Hiroshi Mori, Johannes Levin, Martin R. Farlow, James J. Lah, Christian Haass, Mathias Jucker, John C. Morris, Tammie L.S. Benzinger, Blaine R. Roberts, Randall J. Bateman, Anne M. Fagan, Nicholas T. Seyfried, Allan I. Levey, Jonathan Vöglein, Ricardo Allegri, Patricio Chrem Méndez, Ezequiel Surace, Snežana Ikonomović, Neelesh K. Nadkarni, Francisco Lopera, Laura Ramírez, David Aguillón, Yudy Milena Leon, Cláudia Ramos, Diana Alzate, Ana Baena, Sonia Moreno, Christoph Laske, Elke Kuder-Buletta, Susanne Gräber‐Sultan, Oliver Preische, Anna Hofmann, Kensaku Kasuga, Yoshiki Niimi, Kenji Ishii, Michio Senda, Raquel Sánchez‐Valle, Pedro Rosa‐Neto, Nick C. Fox, David M. Cash, Jae‐Hong Lee, Jee Hoon Roh, Meghan Riddle, William Menard, Courtney Bodge, Mustafa Surti, Leonel Tadao Takada, Víctor Javier Sánchez-González, Maribel Orozco-Barajas, Alison Goate, Alan E. Renton, Bianca Esposito, Jacob Marsh, María Victoria Fernández, Gina Jerome, Elizabeth Herries, Jorge J. Llibre‐Guerra, William S. Brooks, Jacob Bechara, Jason Hassenstab, Erin Franklin, Allison Chen, Charles D. Chen, Shaney Flores, Nelly Friedrichsen, Nancy Hantler, Russ C. Hornbeck, Steve Jarman, Sarah Keefe, Deborah Koudelis, Parinaz Massoumzadeh, Austin McCullough, Nicole S. McKay, Joyce Nicklaus, Christine Pulizos, Qing Wang, Sheetal Mishall, Edita Sabaredzovic, Emily Deng, Hunter Smith, Diana A. Hobbs, Jalen Scott, Peter Wang, Xu Xiong, Yan Li, Emily Gremminger, Yinjiao Ma, Ryan Bui, Ruijin Lu, Ana Luisa Sosa, Alisha Daniels, Laura Courtney, Charlene Supnet, Jinbin Xu, John M. Ringman

Bibliographic record

VenueNature Medicine · 2023
Typearticle
Languageen
FieldMedicine
TopicAlzheimer's disease research and treatments
Canadian institutionsMcGill University
FundersInstituto de Salud Carlos IIICanadian Institutes of Health ResearchDeutsche ForschungsgemeinschaftDeutsches Zentrum für Neurodegenerative ErkrankungenNational Institute of Neurological Disorders and StrokeKorea Health Industry Development InstituteJapan Agency for Medical Research and DevelopmentFondation Brain CanadaNational Institutes of HealthWashington University in St. LouisGoizueta Business School, Emory UniversityEmory UniversityNational Institute on AgingAlzheimer's Association
KeywordsProteomeDiseaseCerebrospinal fluidProteomicsPathologicalPathologyTau proteinPathophysiologyAlzheimer's diseaseAmyloid (mycology)NeuroscienceBiologyMedicineBioinformaticsGeneGenetics

Abstract

fetched live from OpenAlex

Alzheimer's disease (AD) pathology develops many years before the onset of cognitive symptoms. Two pathological processes-aggregation of the amyloid-β (Aβ) peptide into plaques and the microtubule protein tau into neurofibrillary tangles (NFTs)-are hallmarks of the disease. However, other pathological brain processes are thought to be key disease mediators of Aβ plaque and NFT pathology. How these additional pathologies evolve over the course of the disease is currently unknown. Here we show that proteomic measurements in autosomal dominant AD cerebrospinal fluid (CSF) linked to brain protein coexpression can be used to characterize the evolution of AD pathology over a timescale spanning six decades. SMOC1 and SPON1 proteins associated with Aβ plaques were elevated in AD CSF nearly 30 years before the onset of symptoms, followed by changes in synaptic proteins, metabolic proteins, axonal proteins, inflammatory proteins and finally decreases in neurosecretory proteins. The proteome discriminated mutation carriers from noncarriers before symptom onset as well or better than Aβ and tau measures. Our results highlight the multifaceted landscape of AD pathophysiology and its temporal evolution. Such knowledge will be critical for developing precision therapeutic interventions and biomarkers for AD beyond those associated with Aβ and tau.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.798
Threshold uncertainty score0.708

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.028
GPT teacher head0.315
Teacher spread0.288 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations173
Published2023
Admission routes2
Has abstractyes

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