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Temporal order of clinical and biomarker changes in familial frontotemporal dementia
Adam M. Staffaroni, Melanie Quintana, Barbara Wendelberger, Hilary W. Heuer, Lucy L. Russell, Yann Cobigo, Amy Wolf, Sheng‐Yang M. Goh, Leonard Petrucelli, Tania F. Gendron, Carolin Heller, Annie L Clark, Jack C. Taylor, Amy B. Wise, Elise Ong, Leah K. Forsberg, Danielle Brushaber, Julio C. Rojas, Lawren VandeVrede, Peter A. Ljubenkov, Joel H. Kramer, Kaitlin B. Casaletto, Brian S. Appleby, Yvette Bordelon, Hugo Botha, Bradford C. Dickerson, Kimiko Domoto‐Reilly, Julie A. Fields, Tatiana Foroud, Ralitza H. Gavrilova, Daniel H. Geschwind, Nupur Ghoshal, Jill Goldman, Jonathon Graff-Radford, Neill R. Graff‐Radford, Murray Grossman, Matthew Hall, Ging‐Yuek Robin Hsiung, Edward D. Huey, David J. Irwin, David T. Jones, Kejal Kantarci, Daniel Kaufer, David S. Knopman, Walter K. Kremers, Argentina Lario Lago, Maria I. Lapid, Irene Litvan, Diane Lucente, Ian R. Mackenzie, Mario F. Mendez, Carly Mester, Bruce L. Miller, Chiadi U. Onyike, Rosa Rademakers, Vijay K. Ramanan, Eliana Marisa Ramos, Meghana Rao, Katya Rascovsky, Katherine P. Rankin, Erik D. Roberson, Rodolfo Savica, Maria Carmela Tartaglia, Sandra Weıntraub, Bonnie Wong, David M. Cash, Arabella Bouzigues, Imogen J. Swift, Georgia Peakman, Martina Bocchetta, Emily Todd, Rhian S. Convery, James B. Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Elizabeth Finger, John C. van Swieten, Harro Seelaar, Lize C. Jiskoot, Sandro Sorbi, Christopher Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sánchez‐Valle, Alexandre de Mendonça, Fermín Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, John Kornak, Bradley F. Boeve, Howard J. Rosen, Jonathan D. Rohrer, Adam L. Boxer, Liana G. Apostolova, Sami J. Barmada, Andrea Bozoki, David Clark, Giovanni Coppola, Ryan Darby, Dennis W. Dickson, Kelley Faber, Anne M. Fagan, Douglas Galasko, Ian Grant, Eric J. Huang, Diana Kerwin, Suzee Lee, Gabriel C. Léger, Joseph C. Masdeux, Scott McGinnis, María Belén Pascual, Peter Pressman, Aaron Ritter, William W. Seeley, Jeremy A. Syrjanen, Aitana Sogorb‐Esteve, Annabel Nelson, Caroline Greaves, David L. Thomas, Hanya Benotmane, Henrik Zetterberg, Jennifer Nicholas, Kiran Samra, Rachelle Shafei, Carolyn Timberlake, Thomas Cope, Timothy Rittman, Alberto Benussi, Enrico Premi, Roberto Gasparotti, Silvana Archetti, Stefano Gazzina, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Vittoria Borracci, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Sara Prioni, Veronica Redaelli, David F. Tang‐Wai, Ekaterina Rogaeva, Miguel Castelo‐Branco, Morris Freedman, Ron Keren, Sandra E. Black, Sara Mitchell, Christen Shoesmith, Jackie M. Poos, Janne M. Papma, Lucia Giannini, Rick van Minkelen, Yolande A.L. Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Michele Veldsman, Christin Andersson, Håkan Thonberg, Linn Öijerstedt, Vesna Jelić, Paul Thompson, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Núria Bargalló, Sergi Borrego‐Écija, Ana Verdelho, Carolina Maruta, Catarina B. Ferreira, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Ana Gorostidi, Jorge Villanúa, Marta Cañada, Mikel Tainta, Miren Zulaica, Myriam Barandiarán, Patricia Alves, Benjamin Bender, Carlo Wilke, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Koen Poesen, Pedro Rosa‐Neto, Serge Gauthier, Agnès Camuzat, Alexis Brice, Anne Bertrand, Aurélie Funkiewiez, Daisy Rinaldi, Dario Saracino, Olivier Colliot, Sabrina Sayah, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sandra Loosli, Sonja Schönecker, Tobias Hoegen, Jolina Lombardi, Sarah Anderl‐Straub, Adeline Rollin, Grégory Kuchcinski, Maxime Bertoux, Thibaud Lebouvier, Vincent Deramecourt, Beatriz Santiago, Diana Duro, Maria João Leitão, Maria Rosário Almeida, Miguel Tábuas‐Pereira, Sònia Afonso
Bibliographic record
VenueNature Medicine · 2022
Typearticle
Languageen
FieldMedicine
TopicAmyotrophic Lateral Sclerosis Research
Canadian institutionsBaycrest HospitalMcGill UniversityToronto Rehabilitation InstituteDouglas Mental Health University InstituteUniversité LavalUniversity of TorontoWestern UniversitySunnybrook Health Science CentreHealth Sciences CentreOccupational Cancer Research CentreUniversity Health NetworkMontreal Neurological Institute and HospitalUniversity of British Columbia
FundersDavid Geffen School of Medicine, University of California, Los AngelesEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentJanssen PharmaceuticalsNational Institute on AgingUniversity College LondonNIHR Cambridge Biomedical Research CentreTau ConsortiumBrain Research UKBayer VitalNational Institute of Neurological Disorders and StrokeHouston Methodist Research InstituteMinistero della SaluteFaculté de Médecine, Université LavalPfizerCentre National de la Recherche ScientifiqueParkinsonfondenNational Institutes of HealthUniversità degli Studi di MilanoBuck Institute for Research on AgingInstituto de Salud Carlos IIIUK Dementia Research InstituteSahlgrenska AkademinInstitut National de la Santé et de la Recherche MédicaleH. Lundbeck A/SSorbonne UniversitéUniversiteit AntwerpenMedical Research CouncilVetenskapsrådetTauRx PharmaceuticalsUniversità degli Studi di BresciaEli Lilly and CompanyUniversidade de LisboaGöteborgs UniversitetUniversidade de CoimbraDeutsches Zentrum für Neurodegenerative ErkrankungenUniversitat de BarcelonaUniversité de LilleKarolinska InstitutetFONDATION ALZHEIMEREisaiSchool of Medicine, Indiana UniversityStockholms Läns LandstingKU LeuvenCambridge University HospitalsNational Center for Advancing Translational SciencesBundesministerium für Bildung und ForschungFondation Brain CanadaToronto Rehabilitation InstituteWeston Brain InstituteDeutsche ForschungsgemeinschaftUniversity of North Carolina at Chapel HillWolfson FoundationUniversity of TorontoImperial College LondonUniversity of CambridgeNational Institute for Health and Care ResearchPuma BiotechnologyUniversity of California, San FranciscoCanadian Institutes of Health ResearchAlzheimer's SocietyNovartisIonis PharmaceuticalsUniversità degli Studi di FirenzeUniversity of California, Los AngelesFondazione I.R.C.C.S. Istituto Neurologico Carlo BestaUniversity Health NetworkEU Joint Programme – Neurodegenerative Disease ResearchUniversity of WashingtonAgence Nationale de la RechercheJohns Hopkins UniversityWellcome TrustRobarts Research InstituteEberhard Karls Universität TübingenCleveland ClinicLondon School of Hygiene and Tropical MedicineRainwater Charitable FoundationAlzheimer's AssociationGlobal Brain Health InstituteMcGill UniversityUniversity of Texas Southwestern Medical CenterAssociation for Frontotemporal DegenerationUniversité LavalUniversity of California, San DiegoLarry L. Hillblom FoundationTeva Pharmaceutical IndustriesBristol-Myers SquibbVanderbilt UniversityDepartment of Health and Social CareGenentechAstraZenecaSunnybrook Research InstituteNorthwestern UniversityBiogenCurePSPUniversity of PennsylvaniaNational Ataxia FoundationNational Brain AppealUniversität UlmU.S. Department of DefenseUniversity of OxfordACADIA Pharmaceuticals
KeywordsFrontotemporal dementiaC9orf72BiomarkerClinical trialDiseaseMedicineDementiaOncologyNeuropsychologyInternal medicineBioinformaticsPsychologyPsychiatryCognitionGeneticsBiology
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot 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)0.002
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.026
Threshold uncertainty score0.999
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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 head0.058
GPT teacher head0.400
Teacher spread0.342 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
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
Citations138
Published2022
Admission routes2
Has abstractno