Multifocal Atrophy of Cerebellar Internal Granular Neurons in Lesch-Nyhan Disease
Bibliographic record
Abstract
The neuropathologic findings in 31 cases (aged 6 months to 33 years) of Lesch-Nyhan disease (hypoxanthine-guanine phosphoribosyltransferase deficiency) have been previously reported. Herein 2 additional cases, a 10-year-old boy and a 21-year-old man, are described. Both cases had unusual cerebellar abnormalities comprising multifocal internal granular layer atrophy with sparing of the Purkinje layer, one had a slightly small brain, and neither had striatal abnormalities. Careful review of the literature indicates that the most prevalent neuropathologic abnormalities are small cerebrum (13 of 33 cases) and multifocal cerebellar lesions (9 of 33 cases), although these could be underreported. Other authors have disregarded these abnormalities, focusing on the apparently normal basal nuclei, and they have suggested that the clinical neurologic abnormalities are based solely on changes in neurotransmitters. We discuss potential mechanisms of cerebellar damage, suggest that the cerebellar abnormality could in part explain the clinical syndrome, and recommend that cerebellar structure and function should be more carefully studied in Lesch-Nyhan disease.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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".