Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: <i>A rare entity from Morocco in the Middle East and North Africa region</i>
Bibliographic record
Abstract
We report a novel presentation of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in a 9-year-old Moroccan male patient born to consanguineous parents, expanding the known clinical spectrum of the disease. The patient presented to a tertiary care hospital in Rabat, Morocco, in 2023. This case presents an unusual phenotype with early-onset epilepsy beginning at age 5, significantly broadening the known phenotypic spectrum of ARSACS. While initial neuroimaging was unremarkable, the patient exhibited classical retinal involvement with bilateral nerve fibre layer thickening. Genetic analysis revealed a previously unreported homozygous frameshift mutation in the SACS gene (c.12429delT), representing the first documented case in the Moroccan population. This observation extends both the understanding of ARSACS' clinical heterogeneity and its geographical distribution in North Africa. The patient responded favourably to antiepileptic treatment and physiotherapy which underscores the importance of early recognition and multidisciplinary management in atypical presentations. This case highlights the necessity of considering ARSACS in the differential diagnosis of early-onset ataxia with epilepsy, particularly in consanguineous populations.
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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 | 0.000 | 0.003 |
| 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 | 0.002 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 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".