Bibliographic record
Abstract
167 patients with the recessive repeat expansion disorder Friedreich’s ataxia (FRDA) were recruited as part of the European FRDA Consortium for Translational Studies (EFACTS) and underwent longitudinal clinical assessment including validated and standardized clinical and functional rating scales. The mean age at onset was 13.7±9.6 years (range 1-55) and disease duration 20.5±11.2 years (range 3-55). The smaller repeat expansion (GAA1 size) correlated with age at onset, Activities of Daily Living (ADL), Scale for the Assessment and Rating of Ataxia (SARA), Inventory of Non-Ataxic Symptoms (INAS) count & Spinocerebellar Degeneration Functional Score (SDFS). 125 patients were seen after 1 year, and 116 after 2 years. Disease progression could be measured using these rating scales: SARA increased over 2 years by 1.3±3.1, ADL by 2.0±3.2 and SDFS by 0.3±0.6. There was no statistical difference in INAS count. A majority of patients could not complete the Spinocerebellar Ataxia Functional Index (SCAFI) which was deemed inappropriate in FRDA. Two novel FXN mutations were identified, as well as a probable macrodeletion. No compound heterozygous exonic deletions were found amongst 1768 cases referred with a possible diagnosis of FRDA, indicating that these deletions are extremely rare. Twenty-six patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) were recruited (mean age onset 15.0±17.4, range 0-51); mean disease duration 28.5±12.9, range 8-56). Loss of mobility, dysarthria, dysphagia, ataxia, sensory loss, square wave jerks and saccadic dysmetria were less common in ARSACS compared to FRDA; nystagmus, spasticity and hyperreflexia were more common. Nine novel SACS mutations were identified. Retinal Nerve Fibre Layer (RNFL) thickening on ocular coherence tomography (OCT) was found to be a specific (99.4%) and sensitive (100%) marker of ARSACS with positive predictive value of 94.4%, amongst 191 patients with ataxia, using a cut-off thickness of 119μm.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 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) | 0.002 | 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; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".