Analysis of CAG Repeat Expansions in Restless Legs Syndrome
Why this work is in the frame
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Bibliographic record
Abstract
STUDY OBJECTIVES: A relatively high prevalence of restless legs syndrome symptoms has been recently reported in a substantial proportion of patients affected with spinocerebellar ataxia type 3. Our aim was to investigate whether there is a common genetic etiology between restless legs syndrome and spinocerebellar ataxia type 3. DESIGN: Systematic differences in the number of spinocerebellar ataxia type 3 trinucleotide repeat were investigated by means of an association study. The relationship between the size of the expanded alleles and several clinical features was also considered. PARTICIPANTS AND SETTING: 125 extensively characterized restless legs syndrome patients compared with 188 healthy controls matched for ethnic background. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: No CAG repeat expansions in the pathologic or intermediate range were detected in any of the examined subjects, including patients and controls. A similar allelic distribution was observed in both groups (Mann-Whitney U test = 78406; P = 0.99). Moreover, stratification analyses of the patients' samples according to different clinical and polysomnographic variables disclosed no significant differences. CONCLUSIONS: These results do not provide evidence toward an involvement of large CAG trinucleotide expansions at the spinocerebellar ataxia type 3 locus in idiopathic restless legs syndrome.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.003 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it