Charlevoix-Saguenay spastic ataxia: a novel mutation in the SACS gene
Bibliographic record
Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex disorder caused by mutations in the SACS gene located on chromosome 13q12.12. It was initially identified in French Canada, in the Charlevoix and Saguenay-Lac-Saint-Jean regions of Quebec. The clinical phenotypes include early onset cerebellar ataxia, axonal-demyelinating sensorimotor peripheral neuropathy, and pyramidal tract signs. Slowly progressive ataxia is accompanied by limb spasms due to progressive degeneration of the corticospinal and spinal cerebellar tracts [ 1 ]. Most patients exhibit typical peripapillary retinal streaks on ophthalmoscopy and thickened peripheral retinal nerve fiber layers on optical coherence tomography (mean > 119 μm) [ 2 ]. Brain magnetic resonance imaging (MRI) revealed cerebellar atrophy and hypointensity of the pons on T2-weighted and fluid-attenuated inversion recovery (FLAIR) axial sequences. Electrophysiological studies showed mixed demyelination and axonal neuropathy [ 3 ]. Recent studies have shown that ARSACS is not limited to Quebec, Canada. It exists in various forms worldwide [ 3 ]. Here, we describe the clinical and molecular characterization of a 31-year-old Chinese male with a novel nonsense and frameshift SACS mutation.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.002 | 0.000 |
| Research integrity | 0.001 | 0.003 |
| Insufficient payload (model declined to judge) | 0.000 | 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".