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Record W4416602922 · doi:10.1093/brain/awaf440

Cerebrospinal fluid-driven ependymal motile cilia defects are implicated in multiple sclerosis

2025· article· en· W4416602922 on OpenAlexafffund
Maxime Bigotte, Adam M.R. Groh, Elia Afanasiev, Vincent Kam Wai Wong, Kevin Lançon, Moein Yaqubi, Finn Creeggan, Airton Sinott, Craig S. Moore, Adil Harroud, Raphaël Schneider, Philippe Séguéla, Antoine Fournier, Yu Chang Wang, Jiannis Ragoussis, Alexandre Prat, Simon Thebault, Stéphanie Zandee, Jo Anne Stratton

Bibliographic record

VenueBrain · 2025
Typearticle
Languageen
FieldNeuroscience
TopicCerebrospinal fluid and hydrocephalus
Canadian institutionsMcGill Genome CentreSt. Michael's HospitalMemorial University of NewfoundlandCentre Hospitalier de l’Université de MontréalMcGill UniversityMontreal Neurological Institute and Hospital
FundersNatural Sciences and Engineering Research Council of CanadaCanadian Institutes of Health ResearchFonds de Recherche du Québec - SantéUniversity of Cincinnati
KeywordsEpendymal CellEpendymaCerebrospinal fluidCiliumContext (archaeology)Multiple sclerosisCentral nervous system

Abstract

fetched live from OpenAlex

Multiple sclerosis is a disorder of the central nervous system (CNS) in which autoreactive immune cells migrate through a damaged blood brain barrier, resulting in focal demyelinating lesions. Beyond focal lesions, there are also diffuse surface-in gradients of pathology in MS, wherein damage is most severe directly adjacent to cerebrospinal fluid (CSF)-contacting surfaces, such as the subpial and periventricular areas. This observation suggests that toxic factors within MS CSF contribute to the emergence and/or evolution of surface-in gradients. Directly separating the CSF from the periventricular parenchyma are ependymal cells - a glial epithelium that are equipped with tufts of motile cilia which are critical for circulating CSF solutes and regulating local fluid flow. While damage to ependymal cilia has the potential to drastically modify CSF homeostasis and thus contribute to the damage of CSF exposed regions, these motile cellular structures have yet to be investigated in the context of MS. We first conducted single cell RNA sequencing of fresh human periventricular brain tissue containing ependymal cells from MS patients and non-MS disease controls. We subsequently collected CSF from MS patients and exposed cultured rodent ependymal cells to this CSF to evaluate impact on ependymal ciliary function. To complement our direct evaluation of cilia in the context of MS, we also confirmed whether cilia were altered in an animal model of MS, experimental autoimmune encephalomyelitis (EAE), and designed a novel transgenic animal model to evaluate the cellular and behavioural effect(s) of adult ependymal ciliary disruption. Single cell RNA sequencing analysis of human ependymal cells in MS demonstrated largescale dysregulation of ciliary genes and in situ stains of MS brain tissue confirmed a loss of ependymal cilia. Exposure of ependymal cells to MS CSF led to transcriptional modification of ciliary gene and protein expression and reduced ciliary beating frequency. Likewise, analysis of ependymal cells in EAE also demonstrated altered cilia gene and protein expression. We showed that IFNγ, which is elevated in MS CSF, could alter cilia protein expression and motility. Lastly, conditional knockout in adult mice of Ccdc39 in ependymal cells led to transient ventricular enlargement, increased periventricular microglial density, and alterations in nesting behaviour. These data suggest that motile cilia in ependymal cells are dysregulated in CNS autoimmunity. More importantly, they suggest that ependymal cilia disruption could play a role periventricular pathology formation in MS and can lead to behavioural deficits underlying non-motor MS symptomatology.

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)0.000
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.658
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.000
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 head0.045
GPT teacher head0.266
Teacher spread0.221 · 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 designBench or experimental
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
Published2025
Admission routes2
Has abstractyes

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