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Record W4410447580 · doi:10.1038/s43587-025-00878-2

Large-scale network analysis of the cerebrospinal fluid proteome identifies molecular signatures of frontotemporal lobar degeneration

2025· article· en· W4410447580 on OpenAlexaff
Rowan Saloner, Adam M. Staffaroni, Eric B. Dammer, Erik C. B. Johnson, Emily W. Paolillo, Amy B. Wise, Hilary W. Heuer, Leah K. Forsberg, Argentina Lario‐Lago, Julia D Webb, Jacob W. Vogel, Alexander Santillo, Oskar Hansson, Joel H. Kramer, Bruce L. Miller, Jingyao Li, Joseph Loureiro, Rajeev Sivasankaran, Kathleen A. Worringer, Nicholas T. Seyfried, Jennifer S. Yokoyama, Salvatore Spina, Lea T. Grinberg, William W. Seeley, Lawren VandeVrede, Peter A. Ljubenkov, Ece Bayram, Andrea Bozoki, Danielle Brushaber, Ciaran Considine, Gregory S. Day, Bradford C. Dickerson, Kimiko Domoto‐Reilly, Kelley Faber, Douglas Galasko, Tania F. Gendron, Daniel H. Geschwind, Nupur Ghoshal, Caroline Graff, Chadwick M. Hales, Lawrence S. Honig, Ging‐Yuek Robin Hsiung, Edward D. Huey, John Kornak, Walter K. Kremers, Maria I. Lapid, Suzee E. Lee, Irene Litvan, Corey T. McMillan, Mario F. Mendez, Toji Miyagawa, Alexander Pantelyat, Belén Pascual, Joseph C. Masdeu, Henry L. Paulson, Leonard Petrucelli, Peter Pressman, Rosa Rademakers, Eliana Marisa Ramos, Katya Rascovsky, Erik D. Roberson, Rodolfo Savica, Allison Snyder, Anna Campbell Sullivan, Maria Carmela Tartaglia, Marijne Vandebergh, Bradley F. Boeve, Howie Rosen, Julio C. Rojas, Adam L. Boxer, Kaitlin B. Casaletto

Bibliographic record

VenueNature Aging · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBioinformatics and Genomic Networks
Canadian institutionsOccupational Cancer Research CentreUniversity of TorontoUniversity of British Columbia
FundersNational Institute of Neurological Disorders and StrokeHjärnfondenLarry L. Hillblom FoundationAmerican Academy of NeurologyParkinsonfondenKnut och Alice Wallenbergs StiftelseAssociation for Frontotemporal DegenerationAmerican Brain FoundationVetenskapsrådetCure Alzheimer's FundNational Institute on AgingAlzheimer's AssociationU.S. Department of Health and Human Services
KeywordsFrontotemporal lobar degenerationCerebrospinal fluidProteomePathologyNeuroscienceMedicineFrontotemporal dementiaBiologyBioinformaticsDisease

Abstract

fetched live from OpenAlex

The pathophysiological mechanisms driving disease progression of frontotemporal lobar degeneration (FTLD) and corresponding biomarkers are not fully understood. Here we leveraged aptamer-based proteomics (>4,000 proteins) to identify dysregulated communities of co-expressed cerebrospinal fluid proteins in 116 adults carrying autosomal dominant FTLD mutations (C9orf72, GRN and MAPT) compared with 39 non-carrier controls. Network analysis identified 31 protein co-expression modules. Proteomic signatures of genetic FTLD clinical severity included increased abundance of RNA splicing (particularly in C9orf72 and GRN) and extracellular matrix (particularly in MAPT) modules, as well as decreased abundance of synaptic/neuronal and autophagy modules. The generalizability of genetic FTLD proteomic signatures was tested and confirmed in independent cohorts of (1) sporadic progressive supranuclear palsy-Richardson syndrome and (2) frontotemporal dementia spectrum clinical syndromes. Network-based proteomics hold promise for identifying replicable molecular pathways in adults living with FTLD. 'Hub' proteins driving co-expression of affected modules warrant further attention as candidate biomarkers and therapeutic targets.

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0020.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.002
GPT teacher head0.228
Teacher spread0.226 · 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 source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designSimulation or modeling
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

Citations8
Published2025
Admission routes1
Has abstractno

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