FAMILIAL CONGENITAL MIRROR MOVEMENTS: REPORT OF A LARGE 4-GENERATION FAMILY
Bibliographic record
Abstract
REPORT OF A LARGE 4-GENERATION FAMILYMirror movements (MM) are synkinesias occurring in the opposite side during the intentional use of a limb.They are occasionally present in children, but persistence after age 10 is abnormal.1,2 We have found a large 4-generation family with congenital mirror movements not associated with other neurologic abnormalities.Methods.Nineteen members (11 affected and 8 unaffected) of a 4-generation family with individuals affected with congenital MM were interviewed in a systematic questionnaire that queried perinatal history, development, presence of learning disabilities, and other medical history.Information regarding the onset, distribution, suppressibility, and functional and social impact of MM was obtained.A videotaped examination was performed, and subjects underwent diadochokinesimeter measurement of rapid alternating pronation-supination movements at 2 different velocities.The diadochokinesimeter consisted of 2 hand-held plastic spheres connected to optical encoders, which recorded amplitude and velocity of movement in each hand.3 This project was approved by the Institutional Review Board of the Centre Hospitalier de l'Universite ´de Montre ´al.Results.This French Canadian family originates from the Lanaudie `re region of Quebec.There is no known consanguinity.Transmission is autosomal dominant with high but incomplete penetrance.Penetrance is higher in males (figure).The index case first sought neurologic attention for episodes of fatigue, and MM were incidentally noted on examination.They had been present since childhood, and had never resulted in functional or social impairment.The remainder of the neurologic examination was normal.MRI of the brain and cervical cord was normal.Questionnaire results and clinical features are presented in tables e-1 and e-2 on the Neurology ® Web site at www.neurology.org.More men than women were affected (M:F ϭ 9:2).Perinatal and developmental histories did not differ between affected and
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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 | 0.001 | 0.004 |
| Meta-epidemiology (narrow) | 0.003 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.005 | 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; 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".