Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype
Why this work is in the frame
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Bibliographic record
Abstract
Hereditary spastic paraplegias (SPGs) are among the genetically most diverse neurologic disorders with over 70 loci identified.1,2 The recessively inherited SPG26 is caused by mutations in B4GALNT1 , encoding the β-1-4-N-acetyl-galactosaminyl transferase which functions in the biosynthesis of complex glycosphingolipids. To date, 12 families have been reported in 3 publications, with a broad phenotypic spectrum within and between families (table 1). We add a new family to the literature with 3 affected members and a remarkable phenotype of purely fever-induced ataxia with myokymia. We also review all published cases3–5 to encapsulate the current knowledge of the neurologic features and spectrum of this disease. Acknowledgment: The authors thank the family members for participation in the study. Rubina Dad acknowledges her funding by the Higher Education Commission of Pakistan under the International Research Support Initiative Program (HEC-IRSIP).
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| 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 it