‘Pseudo‐Dominant’ Inheritance in Friedreich's Ataxia: Clinical and Genetic Study of a Brazilian Family
Bibliographic record
Abstract
Friedreich's ataxia (FA) is an autosomal recessive inherited disorder characterized by progressive gait and limb ataxia, hypertrophic cardiomyopathy, limb muscular weakness, and areflexia with positive extensor plantar response. Loss of vibratory and position sense, skeletal abnormalities, and dysarthria are common comorbid features. The wide spectrum of disease may lead to a diagnostic challenge, and in such a scenario, the inheritance pattern might be a clue to diagnosis. A rare and peculiar pattern observed in some families is the pseudodominant pattern that is usually characterized by phenotypic variation, which, in turn, could make it even harder to get to a correct diagnosis. This pattern, although seemingly similar to a true dominant pattern of inheritance, should be kept in mind whenever one is evaluating a family with FA. We evaluated a Brazilian family of Italian ancestry with variation of phenotype among affected siblings.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.028 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 teacher head, 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".