New clinical features of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Bibliographic record
Abstract
Background and purpose: Autosomal recessive spastic ataxia of Charlevoix-Saguenay ARSACS) diagnosis is based on the presence of three main clinical features: 1) ataxia, 2) pyramidal involvement, and 3) axonal neuropathy. This study aimed to explore, among a cohort of adults with ARSACS, the prevalence of other signs and symptoms than those commonly describe in this disease and compare their prevalence between younger (< 40 years) and older (≥40 years) participants. Methods: A clinical interview based on a standardized questionnaire was conducted. It included the following items: memory and concentration problems, hearing impairment, epilepsy, spasms, choreathetosis, neuropathic pain, cramps and fecal incontinence. Results: A total of 43 participants were interviewed, with a mean age of 38.9 years and 51.2% were men. Spasms (55.8%), cramps (53.5%), and concentration problems (39.5%) were the most frequent manifestations. Except for choreathetosis, which was present in only one participant, all other signs and symptoms were present in 9.3% to 29.3% of participants. Conclusions: People with ARSACS may experience many other clinical manifestations than the most commonly described. This study is a preliminary step toward the development of a comprehensive evidence-based clinical care guideline for this population.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| 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) | 0.003 | 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 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".