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Charcot-Marie-Tooth Disease With Cerebellar Atrophy

2000· article· en· W1976348742 on OpenAlexaboutno aff
Atle Melberg, Raili Raininko, Niklas Dahl, Yngve Olsson, Erik Stålberg

Bibliographic record

VenueJournal of Clinical Neuromuscular Disease · 2000
Typearticle
Languageen
FieldNeuroscience
TopicHereditary Neurological Disorders
Canadian institutionsnot available
Fundersnot available
KeywordsAtrophyTooth diseaseCerebellar ataxiaMedicineCerebellumMagnetic resonance imagingPolyneuropathyAtaxiaPathologyCerebellar DegenerationNeuroscienceDiseasePsychiatryPsychologyInternal medicineRadiology

Abstract

fetched live from OpenAlex

We report on, 1 36-year-old man of Swedish descent who had teenage onset of a progressive disorder with features of Charcot-Marie-Tooth disease (CMT) and cerebellar ataxia. Cognition was normal. The polyneuropathy was of axonal type. Magnetic resonance imaging of his brain showed cerebellar atrophy. Cerebellar atrophy and CMT has been reported in one French-Canadian family and in several Japanese families, Mental impairment was a feature of the disorder in the Japanese families. A disorder with CMT and cerebellar atrophy is rare in the western world.

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)0.008
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch, Meta-epidemiology (narrow), Insufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.409
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.008
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0000.001
Science and technology studies0.0000.001
Scholarly communication0.0000.001
Open science0.0010.000
Research integrity0.0000.001
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 head0.047
GPT teacher head0.319
Teacher spread0.272 · 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

Citations0
Published2000
Admission routes1
Has abstractyes

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