Ataxie de Friedreich : une maladie mitochondrialedue à une perturbation de l’homéostasie du fer dans les mitochondries
Bibliographic record
Abstract
L’ataxie de Friedreich represente la plus frequente des ataxies hereditaires humaines. C'est une maladie neurodegenerative autosomique recessive touchant environ une personne sur 50 000, soit 1 500 a 2 000 personnes actuellement en France. L'atteinte neurologique s'accompagne dans une majorite des cas d'une atteinte cardiaque qui peut se reveler fatale. En 1996, le gene responsable de l'ataxie de Friedreich etait identifie par un travail en collaboration des equipes francaise et canadienne de Michel Koenig et Massimo Pandolfo [1]. Ces equipes ont montre pour la premiere fois dans une maladie genetique autosomique recessive la responsabilite d'une expansion de triplets dans un gene, celui de la frataxine. L'expansion presente dans le premier intron du gene est retrouvee chez plus de 95 % des patients et varie de 170 a 1 000 chez les malades contre 7 a 25 dans la population normale. L'expansion entraine une diminution quantitative du messager de la frataxine resultant en une perte de fonction de la proteine.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.002 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.000 | 0.003 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.002 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; both teacher heads agree on what is shown here.
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".