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Record W4403105058 · doi:10.1101/2024.10.01.614851

Sex differences in the clinical manifestation of autosomal dominant frontotemporal dementia

2024· preprint· en· W4403105058 on OpenAlexaff
Molly Memel, Adam M. Staffaroni, Ignacio Ilan‐Gala, Jesus Garcia Castro, John Kornak, Maria Carmela Tartaglia, Rowan Saloner, Anna M. VandeBunte, Emily W. Paolillo, Claire J. Cadwallader, Coty Chen, Maria Luisa Gorno-Tempini, Malu Mandelli, Liana Apostolova, N. R. Graff-Radford, Irene Litvan, Ece Bayram, Peter Pressman, Toji Miyagawa, Ian R. Mackenzie, Jill Goldman, R. Ryan Darby, Brian S. Appleby, Len Petrucelli, Tania F. Gendron, Hilary W. Heuer, Leah K. Forseberg, Julio C. Rojas, Bradley F. Boeve, Nellie Brushaber, Kimiko Domoto‐Reilly, Nupur Ghoshal, Maria I. Lapid, Belén Pascual, Suzee Lee, Eilana Ramos, Vijay K. Ramanan, Rosa Rademakers, Katya Rascovsky, Alex Pantelyat, Joseph C. Masdeu, Allison Snyder, Adam L. Boxer, Howard J. Rosen, Kaitlin B. Casaletto

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2024
Typepreprint
Languageen
FieldMedicine
TopicCerebrovascular and genetic disorders
Canadian institutionsUniversity of British ColumbiaUniversity of British Columbia HospitalUniversity of Toronto
Fundersnot available
KeywordsFrontotemporal dementiaDementiaPsychologyMedicinePathologyDisease

Abstract

fetched live from OpenAlex

Abstract INTRODUCTION Sex differences are apparent in neurodegenerative diseases, but have not been comprehensively characterized in frontotemporal dementia (FTD). METHODS Participants included 337 adults with autosomal dominant FTD enrolled in the ALLFTD Consortium. Clinical assessments and plasma were collected annually for up to six years. Linear mixed-effects models investigated how sex and disease stage associated with longitudinal trajectories of cognition, function, and neurofilament light chain (NfL). RESULTS While sex differences were not apparent at asymptomatic stages, females showed more rapid declines across all outcomes in symptomatic stages compared to males. In asymptomatic participants, the association between baseline NfL and clinical trajectories was weaker in females versus males, a difference that attenuated in symptomatic participants. DISCUSSION In genetic FTD, females show cognitive resilience in early disease stages followed by steeper clinical declines later in disease. Baseline NfL may be a less sensitive prognostic tool for clinical progression in females with FTD-causing mutations.

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)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.013
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
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 head0.025
GPT teacher head0.276
Teacher spread0.251 · 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.

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

Citations3
Published2024
Admission routes1
Has abstractyes

Explore more

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