P.057 Distal hereditary motor neuropathy type I due to the GARS: c.1415A>G, p.His472Arg mutation
Bibliographic record
Abstract
Background: The distal hereditary motor neuropathies (dHMN) have been characterized through case reports and family studies. Their genetic characterization remains a work in progress. An appreciation of the genetic underpinnings may lead to treatment options in the future. Hence reports, like this one, which add to this understanding, remain extremely important. Methods: The clinical presentations, electrophysiology and genetics of two patients with the dHMN I phenotype are described. Results: A mother and son presented with slowly progressive distal weakness of the lower extremities with onset in the first and second decades. Distal weakness of the upper extremities developed later. Examination 20 and 50 years after onset revealed wasting and weakness of distal upper and lower extremity muscles with absent distal and preserved proximal deep tendon reflexes. Sensory examination was normal. Electrodiagnostic studies demonstrated a motor axonopathy. Genetics testing revealed a missense mutation on chromosome 7, exon 11 of the GARS gene: c.1415A>G (p.His472Arg). Conclusions: GARS mutations have been identified in patients with the dHMN I (juvenile onset distal weakness and wasting) and dHMN V (upper limb predominant) phenotypes. However, this mutation has not previously been directly linked to the dHMN I phenotype.
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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) | 0.001 | 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 | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.009 | 0.002 |
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".