Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype
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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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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 source (direct Gemma or distilled Codex), 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".