Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?
Bibliographic record
Abstract
Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was first described in the French-Canadian founder population of Quebec in 1978, but genetically confirmed patients have now been reported in individuals from Europe and Japan.Ataxia, dysarthria, spasticity with extensor plantar reflexes, distal muscle wasting, sensorimotor neuropathy and horizontal gaze-evoked nystagmus constitute the most frequent progressive neurological signs.Neuroimaging reveals atrophy of the superior vermis, cervical spinal cord, and cerebral cortex. 1 SACS is the most frequent gene associated with ARSACS. 2 Previous authors reported that retinal hypermyelinated fibres observed in funduscopy are a minor diagnostic criterion for ARSACS that may identify patients with early-onset cerebellar ataxia and characteristic pontine abnormalities. 2 3 We found patients with full ophthalmological examination and retinal nerve-fibre layer (RNFL) photographs showing significant increases in RNFL thickness compared to healthy subjects, but not the myelinated fibres radiating from the optic disk described by previous authors.In addition, digital imaging technologies such as optical coherence tomography to measure peripapillary RNFL thickness and provide retinal images show an increase in the RNFL density in these patients.These findings suggest that RNFL hypertrophy in ARSACS patients was interpreted as hypermyelinated retinal fibres in previous reports, and thus the ARSACS diagnostic criteria, particularly with regard to retinal alterations, should be revised.Increases in RNFL density cause retinal streaks observed in the funduscopy exam that may be confused with
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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 | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.003 |
| Insufficient payload (model declined to judge) | 0.002 | 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".