Bibliographic record
Abstract
Background: Charcot Marie Tooth disease is a polygenic disorder with cannonical features of distal amyotrophy, acrohypesthesia, and tight tendoachilles of either axonal (type 2) or demeylinating (type 1) varieties. Type 1 CMT patients are required to possess conduction slowing of a sufficient degree to qualify as demyelinating. Presented is a middle-aged man with an unremarkable neurologic exam and normal electrophysiology. Methods: Standard electrophysiological techniques were employed to obtain the nerve conduction data (Natus Nicolet EDX AT2; Middleton, WI, USA). Repeated next generation sequencing and deletion/duplication analyses were performed. Results: The nerve conduction studies showed no evidence of demyelination in the upper or lower extremeties. The duplication error was confirmed with repeat testing. The heterozygous PMP22 gene duplication encompassed the entire coding sequence involving exons 1-5. Conclusions: CMT1A accounts for the vast majority of dysmyelinating hereditary neuropathies. Phenotypic variability is well described. Presentations include (a) classic conduction slowing, (b) intermediate slowing, (c) conduction block, (d) HNPP-like, (e) absent CMAPs, and (f) normal NCSs in young infants. This is the first case of a neurologically intact adult with CMT1A. Cryptogenic genetic modifier-effect(s) are posited as a possible explanation of the lack of penetrance. Identifying the nature of this modification may prove instructive for future therapies.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.004 | 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".