A Rare Case of Autosomal Recessive Spastic Ataxia of Charlevoix - Saguenay
Bibliographic record
Abstract
Background: Autosomal recessive spastic ataxia of Charlevoix -Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the Charlevoix -Saguenay -Lac -Saint -Jean (CSLSJ) region of Quebec. It is caused by mutations in SACS gene on chromosome 13 which encodes the protein Sacsin. It is characterized by triad of spasticity, cerebellar symptoms and sensory and motor polyneuropathy. Clinical Case: A 29 years old unmarried female born out of non -consanguineous marriage presented to the hospital with a history of difficulty in maintaining balance while walking since 17 years, dysarthria and stiffness in lower limb. She had no significant drug history or other medical illness. There was history of intentional tremors in father since 3 years. Her mother died at the age of 40 due to some neurological issue with unknown cause. On neurological examination, there was all four limbs spasticity, deep tendon reflexes were exaggerated, with bilateral extensor plantar response. Examination also revealed dysmetria, dysdiadochokinesia and abnormal knee -heel -shin test on left side. The patient was swaying from side to side with open eyes and her feet positioned opposite each other. Romberg's test was negative. There were no significant findings on systemic examination. Fundus and retinal examination were normal. Her routine blood works were within normal limits. On MRI brain imaging, there were areas of edema involving the bulky pons and striped Hypointensities with mild cerebral and moderate cerebellar atrophic changes. Nerve conduction study indicated axonal demyelinating polyneuropathy, involving sensory nerves more than motor nerves, and affecting lower limbs more than upper limbs. Conclusion: The diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix -Saguenay was established based on clinical manifestations, radiological imaging and nerve conduction studies. Index of suspicion should be higher for early diagnosis in young patients with gait ataxia and spasticity with cerebellar atrophy in the brain imaging. treatment in this patient was focused on symptomatic relief and supportive care including physical and occupational therapy.
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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 | 0.002 | 0.005 |
| 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 | 0.003 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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".