P.042 A novel SOD1 mutation associated with rapidly evolving lower motor neuron syndrome and MR ventral nerve root enhancement
Bibliographic record
Abstract
Background: Mutations in the Cu/Zn superoxide dismutase 1 (SOD 1) gene are estimated to cause 20% of familial ALS and 1-2% of sporadic cases. Accurate gene variant classification of novel mutations in amyotrophic lateral sclerosis (ALS) has deepened our understanding of clinical phenotypes, provided pathologic insights, and is crucial to incorporating emerging therapies. Methods: We describe a case of a 75-year-old female who presented with a rapidly progressive lower motor neuron syndrome leading to flaccid quadriparesis and complete loss of independence over a five month period. Results: Genetic testing demonstrated a heterozygous variant of uncertain significance in the SOD1 gene with a g > c point mutation at position 382 that has been described in one other patient in available literature. MR of the lumbar spine demonstrated abnormal smooth nerve root enhancement. Conclusions: This novel mutation in the SOD1 gene may be associated with a rapidly progressive phenotype of sporadic ALS. Ventral nerve root enhancement should not exclude a diagnosis of ALS especially in the absence of nodularity or nerve enlargement.
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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 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 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".