Bibliographic record
Abstract
In this issue of Neurology , Mrissa et al.1 add a new twist to the long list of recent discoveries in the ataxias. They examined a large family with a recessive early-onset ataxia that resembled Friedreich ataxia (FRDA) but differed from it by the preservation of tendon reflexes. Although some FRDA alleles (those caused by relatively short GAA expansions in the frataxin gene) do not lead to lost tendon reflexes (Friedreich ataxia with retained reflexes [FARR]), genetic linkage analysis quickly excluded linkage of the disease mutation to the FRDA locus on human chromosome 9q13. Another recessive ataxia characterized by vitamin E deficiency (AVED) and caused by a mutation in the α-tocopherol transfer protein was excluded as well. It may be surprising at first that the authors also examined linkage to dominant ataxia loci. However, consanguineous marriages and a high frequency of mutant alleles in the population can produce a pseudo-dominant inheritance pattern. When an affected homozygote mates with an unaffected heterozygote, 50% of the offspring will be affected. After the authors had excluded linkage to known dominant spinocerebellar ataxia (SCA) loci, Mrissa et al. embarked on a search of the entire human genome for …
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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 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.004 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.006 | 0.004 |
| 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".