Characteristic MRI and funduscopic findings help diagnose ARSACS outside Quebec
Bibliographic record
Abstract
Characteristic MRI and funduscopic findings help diagnose ARSACS outside Quebec A 20-year-old German man had progressive ataxia, spasticity, and polyneuropathy from childhood. MRI revealed linear pontine hypointensities (figure, A) and cerebellar atrophy (figure, B). Funduscopy showed myelinated fibers radiating from the optic disc (figure Autosomal recessive spastic ataxia Charlevoix-Saguenay (ARSACS) was diagnosed by identification of biallelic SACS gene mutations (chromosome 13q12). The gene product is sacsin, found in large neurons such as Purkinje cells, one of many ataxia-related proteins. ARSACS, first described in the French-Canadian founder population of Quebec, occurs outside Quebec, 1,2 suggesting that worldwide screening in early-onset cerebellar ataxia with characteristic pontine and funduscopic abnormalities may identify additional cases.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.007 | 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".