Congenital Mirror Movements in a New Italian Family
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Bibliographic record
Abstract
Abstract Mirror movements ( MM s) occur on the contralateral side of a limb being used intentionally. Because few families with congenital MM s and no other neurological signs have been reported, the underlying mechanisms of MM s are still not entirely clear. We report on the clinical, genetic, neurophysiological and neuroimaging findings of 10 of 26 living members of a novel four‐generation family with congenital MM s. DCC and RAD 51 were sequenced in affected members of the family. Five of the ten subjects with MM s underwent neurophysiological and neuroimaging evaluations. The neurophysiological evaluation consisted of electromyographic ( EMG) mirror recordings, investigations of corticospinal excitability, and analysis of interhemispheric inhibition using transcranial magnetic stimulation techniques. The neuroimaging evaluation included functional MRI during finger movements. Eight (all females) of the ten members examined presented MM s of varying degrees at the clinical assessment. Transmission of MM s appears to have occurred according to an autosomal‐dominant fashion with variable expression. No mutation in DCC or RAD 51 was identified. EMG mirror activity was higher in MM subjects than in healthy controls. Short‐latency interhemispheric inhibition was reduced in MM subjects. Ipsilateral motor‐evoked potentials were detectable in the most severe case. The neuroimaging evaluation did not disclose any significant abnormalities in MM subjects. The variability of the clinical features of this family, and the lack of known genetic abnormalities, suggests that MM s are heterogeneous disorders. The pathophysiological mechanisms of MM s include abnormalities of transcallosal inhibition and corticospinal decussation.
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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 | 0.001 | 0.014 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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 it