PERIPHERAL NERVE INVOLVEMENT IN A CHILD WITH CREE LEUKODYSTROPHY
Bibliographic record
Abstract
Objectives: To describe peripheral nerve involvement in a 12 month old boy with Cree Leukodystrophy. Methods: Nerve conduction studies were performed in a 12 month old boy of Cree descent during investigation of his leukodystrophy. Genetic analysis of the translation initiation factor 2B (EIF2B5) gene was performed. Results of the nerve conduction studies and genetic analysis are provided. The Medline database was searched using the terms 'Cree Leukodystrophy, Cree Leukoencephalopathy, Childhood Ataxia with Central Hypomyelination and Vanishing White Matter Disease'. The literature was reviewed looking specifically for reports of peripheral nerve involvement. Results: Mutation analysis of the EIF2B5 gene confirmed the diagnosis of Cree Leukodystrophy. While median and posterior tibial motor nerve conduction studies were normal, sensory responses in the median nerves were unobtainable bilaterally. This was felt to be in keeping with a sensory axonal neuropathy. Conclusion: Cree Leukodystrophy is a rapidly progressive and fatal disorder. It is related to Vanishing White Matter disease in that both diseases are caused by mutations in the gene encoding the translation initiation factor 2B (EIF2B5) located on chromosome 3q. How mutations in the gene result in a leukodystrophy is unclear. Our patient who has a genetically confirmed diagnosis of Cree Leukodystrophy also had evidence of a sensory neuropathy. To our knowledge, this is the first report of peripheral nerve involvement in any of the EIF2B5 related disorders. We feel that peripheral nerve involvement in these diseases may help determine how a mutation in the EIF2B5 gene results in this rapidly fatal disease.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.003 |
| 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".