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Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study
Agnès Pérez‐Millan, Sergi Borrego‐Écija, John C. van Swieten, Lize C. Jiskoot, Fermín Moreno, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Christopher Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Pietro Tiraboschi, Harro Seelaar, Tobias Langheinrich, Jonathan D. Rohrer, Roser Sala‐Llonch, Raquel Sánchez‐Valle, Abbe Ullgren, Adeline Rollin, Agnès Camuzat, Aitana Sogorb‐Esteve, Alazne Gabilondo, Albert Lladó, Alberto Benussi, Alexis Brice, Ana Gorostidi, Ana Verdelho, Andrea Arighi, Anna Antonell, Anne Bertrand, Annerose Engel, Annick Vogels, Arabella Bouzigues, Aurélie Funkiewiez, Benedetta Nacmias, Benjamin Bender, Camilla Ferrari, Carlo Wilke, Carolin Heller, Carolina Maruta, Caroline Greaves, Carolyn Timberlake, Catarina B. Ferreira, Catharina Prix, Chiara Fenoglio, Christen Shoesmith, Cristina Polito, Daisy Rinaldi, Dario Saracino, David M. Cash, David L. Thomas, David F. Tang‐Wai, Diana Duro, Ekaterina Rogaeva, Elio Scarpini, Elisabeth Wlasich, Emanuele Buratti, Emily Todd, Enrico Premi, Frederico Simões do Couto, Gabriel Miltenberger, Gemma Lombardi, Giacomina Rossi, Giorgio Fumagalli, Giorgio Giaccone, Giuseppe Di Fede, Grégory Kuchcinski, Hanya Benotmane, Henrik Zetterberg, Imogen J. Swift, Jackie M. Poos, Janne M. Papma, Jennifer Nicholas, João Durães, Jolina Lombardi, Jordi Juncà‐Parella, Jordi Sarto, Jorge Villanúa, Kiran Samra, Koen Poesen, Linn Öijerstedt, Lisa Graf, Lucia Giannini, Lucy L. Russell, Maria João Leitão, Maria Rosário Almeida, María Serpente, Marisa Lima, Marta Cañada, Martina Bocchetta, Maryna Polyakova, Mathieu Vandenbulcke, Maxime Bertoux, Michele Veldsman, Miguel Castelo‐Branco, Miguel Tábuas‐Pereira, Mikel Tainta, Mircea Balasa, Miren Zulaica, Morris Freedman, Myriam Barandiarán, Núria Bargalló, Olivia Wagemann, Olivier Colliot, Paola Caroppo, Patricia Alves, Paul Thompson, Pedro Rosa‐Neto, Philip Van Damme, Rachelle Shafei, Rhian S. Convery, Rick van Minkelen, Roberto Gasparotti, Ron Keren, Rosa Rademakers, Rose Bruffaerts, Sabrina Sayah, Sandra E. Black, Sandra Loosli, Sara Mitchell, Sara Prioni, Sarah Anderl‐Straub, Serge Gauthier, Sònia Afonso, Sonja Schönecker, Stefano Gazzina, Thibaud Lebouvier, Thomas Cope, Timothy Rittman, Tobias Hoegen, Valentina Bessi, Valentina Cantoni, Veronica Redaelli, Vesna Jelić, Vincent Deramecourt, Vittoria Borracci
Bibliographic record
VenueJournal of Neurology · 2022
Typearticle
Languageen
FieldMedicine
TopicAmyotrophic Lateral Sclerosis Research
Canadian institutionsMcGill UniversityDouglas Mental Health University InstituteWestern UniversityMontreal Neurological Institute and HospitalUniversity of TorontoOccupational Cancer Research CentreHealth Sciences CentreSunnybrook Health Science CentreUniversité Laval
FundersMedical Research FoundationNIHR Cambridge Biomedical Research CentreMedical Research CouncilStichting DioraphteStockholms Läns LandstingUK Dementia Research InstituteAlzheimer's SocietyMinistero della SaluteInstituto de Salud Carlos IIIWeston Brain InstituteZonMwBrain Research UKDeutsche ForschungsgemeinschaftWellcome TrustUniversity College LondonBrain Research TrustNederlandse Organisatie voor Wetenschappelijk OnderzoekAgence Nationale de la RechercheNational Institute for Health and Care ResearchAlzheimer NederlandEU Joint Programme – Neurodegenerative Disease ResearchCanadian Institutes of Health ResearchFundación BBVAFundació la Marató de TV3
KeywordsC9orf72BrainstemNeurologyNeuroradiologyWhite matterNeuroscienceMedicineMotor neuronAudiologyPsychologyPathologyMagnetic resonance imagingFrontotemporal dementiaDementiaRadiologyDisease
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 machine prediction
Teacher imitationNot 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)0.001
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.013
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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 head0.019
GPT teacher head0.281
Teacher spread0.263 · 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 source (direct Gemma or distilled Codex), 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
Citations2
Published2022
Admission routes2
Has abstractno