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Record W4409812520 · doi:10.1002/alz.14608

Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia

2025· article· en· W4409812520 on OpenAlexafffund
Xulin Liu, Sterre C.M. de Boer, Kasey Cortez, Jackie M. Poos, Ignacio Illán‐Gala, Hilary W. Heuer, Leah K. Forsberg, Kaitlin B. Casaletto, Molly Memel, Brian S. Appleby, Sami J. Barmada, Andrea Bozoki, David Clark, Yann Cobigo, Ryan Darby, Bradford C. Dickerson, Kimiko Domoto‐Reilly, Douglas Galasko, Daniel H. Geschwind, Nupur Ghoshal, Neill R. Graff‐Radford, Ian Grant, Ging‐Yuek Robin Hsiung, Lawrence S. Honig, Edward D. Huey, David J. Irwin, Kejal Kantarci, Gabriel C. Léger, Irene Litvan, Ian R. Mackenzie, Joseph C. Masdeu, Mario F. Mendez, Chiadi U. Onyike, Belén Pascual, Peter Pressman, Ece Bayram, Eliana Marisa Ramos, Erik D. Roberson, Emily Rogalskı, Arabella Bouzigues, Lucy L. Russell, Phoebe H. Foster, Eve Ferry‐Bolder, Mario Masellis, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Raquel Sánchez‐Valle, Robert Laforce, Caroline Graff, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Sandro Sorbi, Markus Otto, Florence Pasquier, Simon Ducharme, Christopher Butler, Isabelle Le Ber, Elizabeth Finger, James B. Rowe, Matthis Synofzik, Fermín Moreno, Barbara Borroni, Bradley F. Boeve, Adam L. Boxer, Howie Rosen, Yolande A.L. Pijnenburg, Jonathan D. Rohrer, Maria Carmela Tartaglia

Bibliographic record

VenueAlzheimer s & Dementia · 2025
Typearticle
Languageen
FieldMedicine
TopicAmyotrophic Lateral Sclerosis Research
Canadian institutionsWestern UniversityMcGill UniversityDouglas Mental Health University InstituteUniversité LavalSunnybrook Health Science CentreHealth Sciences CentreOccupational Cancer Research CentreMontreal Neurological Institute and HospitalUniversity Health NetworkUniversity of TorontoUniversity of British Columbia
FundersNational Institute for Health and Care ResearchNational Institute on AgingNIHR Cambridge Biomedical Research CentreMedical Research CouncilAlzheimer NederlandInstituto de Salud Carlos IIIWeston Brain InstituteZonMwBrain Research UKDemensförbundetDeutsche ForschungsgemeinschaftBrain FoundationWellcome TrustUniversity College LondonStichting DioraphteNational Institute of Neurological Disorders and StrokeUniversity of CambridgeBundesministerium für Bildung und ForschungNederlandse Organisatie voor Wetenschappelijk OnderzoekLewy Body Dementia AssociationNational Institute of Mental HealthVetenskapsrådetMinistero della SaluteOntario Brain Institute
KeywordsFrontotemporal dementiaMedicinePhenotypeDementiaClinical psychologyGeneticsPathologyBiologyDisease

Abstract

fetched live from OpenAlex

INTRODUCTION: Higher male prevalence in sporadic behavioral variant frontotemporal dementia (bvFTD) has been reported. We hypothesized differences in phenotypes between genetic and sporadic bvFTD females resulting in underdiagnosis of sporadic bvFTD females. METHODS: We included genetic and sporadic bvFTD patients from two multicenter cohorts. We compared behavioral and cognitive symptoms, and gray matter volumes, between genetic and sporadic cases in each sex. RESULTS: Females with sporadic bvFTD showed worse compulsive behavior (p = 0.026) and language impairments (p = 0.024) compared to females with genetic bvFTD (n = 152). Genetic bvFTD females had smaller gray matter volumes than sporadic bvFTD females, particularly in the parietal lobe. DISCUSSION: Females with sporadic bvFTD exhibit a distinct clinical phenotype compared to females with genetic bvFTD. This difference may explain the discrepancy in prevalence between genetic and sporadic cases, as some females without genetic mutations may be misdiagnosed due to atypical bvFTD symptom presentation. HIGHLIGHTS: Sex ratio is equal in genetic behavioral variant of frontotemporal dementia (bvFTD), whereas more males are present in sporadic bvFTD. Distinct neuropsychiatric phenotypes exist between sporadic and genetic bvFTD in females. Phenotype might explain the sex ratio difference between sporadic and genetic cases.

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)0.001
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 score0.004
Threshold uncertainty score0.014

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0040.000

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 head0.083
GPT teacher head0.378
Teacher spread0.295 · 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 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

Citations9
Published2025
Admission routes2
Has abstractyes

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