MétaCan
Menu
Back to cohort
Record W1914859108 · doi:10.1002/acn3.228

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

2015· article· en· W1914859108 on OpenAlexafffund
Ziv Gan‐Or, Anat Mirelman, Ronald B. Postuma, Isabelle Arnulf, Anat Bar‐Shira, Yves Dauvilliers, Alex Désautels, Jean‐François Gagnon, Claire S. Leblond, Birgit Frauscher, Roy N. Alcalay, Rachel Saunders‐Pullman, Susan Bressman, Karen Marder, Christelle Monaca, Birgit Högl, Avi Orr‐Urtreger, Patrick A. Dion, Jacques Montplaisir, Nir Giladi, Guy A. Rouleau

Bibliographic record

VenueAnnals of Clinical and Translational Neurology · 2015
Typearticle
Languageen
FieldMedicine
TopicLysosomal Storage Disorders Research
Canadian institutionsUniversité du Québec à MontréalUniversité de MontréalHôpital du Sacré-Cœur de MontréalMontreal General HospitalMcGill UniversityCanadian Sleep & Circadian NetworkMontreal Neurological Institute and Hospital
FundersNational Institute of Neurological Disorders and StrokeCanadian Institutes of Health Research
KeywordsRapid eye movement sleepREM sleep behavior disorderEye movementMedicineSleep (system call)DiseaseMovement disordersParkinson's diseaseCohortSleep disorderPsychiatryInternal medicineOphthalmologyInsomnia

Abstract

fetched live from OpenAlex

Rapid eye movement sleep behavior disorder and GBA mutations are both associated with Parkinson's disease. The GBA gene was sequenced in idiopathic rapid eye movement sleep behavior disorder patients (n = 265), and compared to controls (n = 2240). Rapid eye movement sleep behavior disorder questionnaire was performed in an independent Parkinson's disease cohort (n = 120). GBA mutations carriers had an OR of 6.24 (10.2% in patients vs. 1.8% in controls, P < 0.0001) for rapid eye movement sleep behavior disorder, and among Parkinson's disease patients, the OR for mutation carriers to have probable rapid eye movement sleep behavior disorder was 3.13 (P = 0.039). These results demonstrate that rapid eye movement sleep behavior disorder is associated with GBA mutations, and that combining genetic and prodromal data may assist in identifying individuals susceptible to Parkinson's disease.

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)0.000
metaresearch head score (Gemma)0.001
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 score0.003
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0030.000

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 head0.177
GPT teacher head0.434
Teacher spread0.257 · 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

Citations140
Published2015
Admission routes2
Has abstractyes

Explore more

Same venueAnnals of Clinical and Translational NeurologySame topicLysosomal Storage Disorders ResearchFrench-language works237,207