<i>ACTA2</i>-Related Dysgyria: An Under-Recognized Malformation of Cortical Development
Bibliographic record
Abstract
<h3>BACKGROUND AND PURPOSE:</h3> Pathogenic variants in the <i>ACTA2</i> gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral abnormalities in patients with <i>ACTA2</i> pathogenic variants as per the 2020 consensus recommendations for the definition and classification of malformations of cortical development. <h3>MATERIALS AND METHODS:</h3> We performed a retrospective, multicentric review of patients with proved <i>ACTA2</i> pathogenic variants, searching for the presence of malformations of cortical development. A consensus read was performed for all patients, and the type and location of cortical malformation were noted in each. The presence of the typical <i>ACTA2</i> arterial phenotype as well as demographic and relevant clinical data was obtained. <h3>RESULTS:</h3> We included 13 patients with <i>ACTA2</i> pathogenic variants (Arg179His mutation, <i>n</i> = 11, and Arg179Cys mutation, <i>n</i> = 2). Ninety-two percent (12/13) of patients had peri-Sylvian dysgyria, 77% (10/13) had frontal dysgyria, and 15% (2/13) had generalized dysgyria. The peri-Sylvian location was involved in all patients with dysgyria (12/12). All patients with dysgyria had a characteristic arterial phenotype described in <i>ACTA2</i> pathogenic variants. One patient did not have dysgyria or the characteristic arterial phenotype. <h3>CONCLUSIONS:</h3> Dysgyria is common in patients with <i>ACTA2</i> pathogenic variants, with a peri-Sylvian and frontal predominance, and was seen in all our patients who also had the typical <i>ACTA2</i> arterial phenotype.
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How this classification was reachedexpand
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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".