Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report
Bibliographic record
Abstract
BACKGROUND: Spastic ataxia Charlevoix-Saguenay is a rare autosomal recessive neurodegenerative disorder characterized by a combination of spasticity, ataxia, and peripheral neuropathy. Although predominantly affecting individuals of French-Canadian descent, the geographic distribution of spastic ataxia Charlevoix-Saguenay-associated cases is expanding. CASE PRESENTATION: This study presents the case of a 3-year-old Uruguayan girl with suspected autosomal recessive spastic ataxia of Charlevoix-Saguenay, demonstrating the disease's presence in previously unreported locations. Exome sequencing analysis revealed two compound heterozygous variants in the sacsin molecular chaperone gene, one of which was novel. CONCLUSION: This report highlights the genomic heterogeneity of spastic ataxia Charlevoix-Saguenay and emphasizes the importance of investigating the genetic landscape of the disease in diverse populations. Understanding the underlying genetic alterations and their geographic distribution contributes to improved diagnosis, management, and potentially targeted therapies for individuals affected by spastic ataxia Charlevoix-Saguenay worldwide.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.005 | 0.002 |
| 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".