Action myoclonus-renal failure syndrome: the definitive clinico-pathological description
Bibliographic record
Abstract
The causes of myoclonus are protean and often obscure; none more obscure than the action myoclonus–renal failure (AMRF) syndrome reported in four French Canadian patients from the province of Quebec by Andermann et al . in 1986. In their current paper, Andermann and colleagues transform this condition from a local rarity to one of global significance, identified in families from Canada, the USA, Cuba, Europe and Australia (Badhwar et al ., 2004). Patients in their series presented in the second and third decades of life with renal, neurological or combined features. Tremor was usually followed by the development of progressively disabling myoclonus on voluntary movement, coupled with cerebellar signs, infrequent generalized seizures, but preserved cognitive function. Renal disease presented as proteinuria and progressed to renal failure. Renal biopsy revealed collapsing glomerulopathy, a severe variant of focal segmental glomerulosclerosis that is more commonly seen in the setting of human immunodeficiency virus infection. …
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.003 |
| Insufficient payload (model declined to judge) | 0.001 | 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; both teacher heads agree on what is shown here.
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".