Diagnostic Value of Neurophysiological Evaluation in Patients with ARSACS
Bibliographic record
Abstract
Title: Diagnostic value of neurophysiological evaluation in patients with ARSACS. Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by early-onset spastic ataxia with congenital deformity of the extremities and retinal striation. Although it has been known that ARSACS is frequently associated with peripheral neuropathy, it has not been described in detail using electrophysiology. Methods and finding: We report the clinical, electrophysiological, and nerve ultrasonographic findings of three patients with ARSACS. Our patients exhibited electrophysiological signs of both myelinopathy and axonopathy, predominantly affecting the lower limbs, with slow MCV and prolonged F wave latency. These results suggested that the characteristics of neuropathy in ARSACS might arise from primary length-dependent peripheral myelinopathy associated with secondary axonal injury that worsened over a long period. Nerve ultrasonography revealed slight nerve enlargement, also suggestive of peripheral nerve demyelnation. These findings indicated that the peripheral neuropathy observed in patients with ARSACS might predominantly be demyelinating in origin with patchy demyelination. Conclusion: These electrophysiological and ultrasonographical observations might be helpful for the accurate diagnosis of ARSACS because clinical features of ARSACS are diverse, including atypical cases with a spasticity-lacking phenotype or cases without a family history.
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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 | 0.009 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 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".