AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (ARSACS): CASE REPORT
Bibliographic record
Abstract
Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, spasticity, and sensorimotor polyneuropathy. It was initially described in Canada but is now being increasingly recognized worldwide. ARSACS is caused by pathogenic mutations in the SACS gene, with new mutations being continuously identified. We report a 28-year-old male from India, born of a non- Case Presentation: consanguineous marriage, who presented with progressive gait ataxia and recurrent falls from 3 years of age. Additional symptoms included dysarthria, lower limb stiffness, and distal muscle wasting. Examination revealed bilateral pes cavus, hammer toes, spasticity, brisk reflexes, extensor plantar response, and cerebellar signs. MRI brain showed superior cerebellar vermian atrophy and characteristic pontine linear T2 hypointensities. Nerve conduction studies indicated predominant demyelinating neuropathy. Genetic testing identified a novel pathogenic nonsense mutation (C,4232T > G) and another mutation of uncertain significance (C,8132C > T) in exon 10 of the SACS gene, confirming the diagnosis of ARSACS. ARSACS is often misdiagnosed as cerebral palsy or other hereditary ataxias. The presence of Discussion: early-onset ataxia with spasticity and peripheral neuropathy, combined with characteristic MRI findings, strongly suggests ARSACS. While previously reported mainly in Canada, this case highlights its occurrence in India and contributes to the expanding spectrum of SACS mutations. ARSACS Conclusion: should be considered in cases of early-onset ataxia with spasticity and neuropathy. MRI findings significantly aid in diagnosis, which is ultimately confirmed by genetic testing. This case not only adds to the global understanding of ARSACS but also reports a novel pathogenic mutation in the SACS gene, broadening the known genetic spectrum of the disease.
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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 | 0.003 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".