Levodopa‐Responsive Dystonia Secondary to <scp> <i>CTNNB1</i> </scp> Neurodevelopmental Disorder
Bibliographic record
Abstract
CTNNB1 neurodevelopmental disorder (CTNNB1-NND) is associated with heterozygous loss-of-function mutation of CTNNB1 gene (OMIM116806), which causes dopaminergic neurogenesis dysfunction 1,2 and leads to a wide range of neurological, behavioral, and ocular manifestations, including limb predominant spasticity, dystonia, truncal hypotonia, cognitive impairment, autism spectrum disorder (ASD), speech impairment, behavioral challenges, microcephaly, familial exudative vitreoretinopathy and lens/vitreous opacities, refractive errors, and strabismus.3,4 Currently, there is no curative treatment for this condition.Trials using levodopa (L-dopa) to treat CTNNB1-NND-related dystonia yielded variable clinical response.Pipo-Deveza and colleagues reported a case with improved hypertonia and neurodevelopmental outcomes after the initiation of L-dopa.2 However, this medication provided only mild or no clinical improvement for CTNNB1-NND patients reported in another case series.5 We report on 5 patients with CTNNB1-NND-associated dystonia who were treated with L-dopa/carbidopa and outline their treatment response.Table S1 summarizes their demographic data, clinical features, molecular diagnosis, and neuroimaging findings.Clinically, they shared some common features that were previously reported in other CTNNB1-NND cases, which are presented in Table S2.This table presents pooled patient's data on the clinical response of dystonia to L-dopa, highlighting common characteristics, such as early-onset global developmental delay, microcephaly, truncal hypotonia, progressive lower-limb spasticity and hyperreflexia, dystonia, and anxiety/emotional lability.1,3,4 Two patients had facial dysmorphisms, which were consistent with the findings in previously reported cases.3,4 Tethered spinal cord was another feature of CTNNB1-NND, 4 which was found in
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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".