121 ARSACS: a novel phenotype causing peripheral neuropathy, ataxia and spasticity with supranuclear gaze palsy, myoclonus and epilepsy
Bibliographic record
Abstract
The phenotype of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) was initially reported as early-onset limb ataxia, spastic paraparesis and sensorimotor neuropathy with dysarthria, retinal abnormalities, horizontal nystagmus, urinary dysfunction and mitral valve prolapse in patients from North-Eastern Quebec. The identification of recessive mutations in the SACS gene as the cause of ARSACS has allowed genetically-based diagnoses to be made. Subsequent reports from areas outside of Quebec have broadened the ARSACS phenotype to include adult onset as well as patients presenting with only one or two of the triad of spasticity, ataxia and neuropathy. We describe a patient with genetically confirmed ARSACS whose clinical features comprise spasticity, ataxia and neuropathy but also features not previously described in ARSACS including supranuclear gaze palsy, myoclonus and epilepsy as well as unusual skin biopsy findings. Sequencing of the SACS gene revealed that he was compound heterozygous for two novel mutations, further broadening the phenotype and genotype of this increasingly recognised condition.
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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) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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".