Teaching Video NeuroImage: Peculiar Hobby Horse Gait in Huntington Disease–like 2
Bibliographic record
Abstract
A 59-year-old woman presented at age 48 years with abnormal hand movements, which became generalized 1 year later, along with a clumsy gait. Two years later, severe apathy and minor auditory hallucinations ensued. Her father died undiagnosed with involuntary movements at age 82 years, and 2 of her 6 sisters have also had a similar clinical picture. Neurologic examination revealed generalized chorea and an unusual dystonic gait pattern remarkably similar to the hobby horse gait, described in DYT-TUBB4A (DYT-4), which is characterized by a toe walking stiff-legged and skipping gait1 (Video 1). Walking backward improved the gait. Diagnostic workup revealed acanthocytes and mild caudate atrophy (Figure 1). A pathogenic 46 CTG/CAG repeat expansion on the JPH3 gene allowed the diagnosis of Huntington disease–like 2, an autosomal dominant Huntington disease phenocopy characterized by chorea, dystonia, and parkinsonism.2 This case expands underlying conditions recognized to cause the HHG (please see the Supplement, [links.lww.com/WNL/B931][1]). [1]: http://links.lww.com/WNL/B931
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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 | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.002 |
| Insufficient payload (model declined to judge) | 0.022 | 0.005 |
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".