Huntington's Disease‐like Syndrome as a Rare Presentation of <scp> <i>CACNA1A</i> </scp> ‐Related Disorder
Bibliographic record
Abstract
Huntington's disease (HD)-like syndromes or HD phenocopies account for around 1% of suspected HD cases and lack pathogenic CAG expansions in HTT.1,2 Although the majority of HD-like patients remain without a molecular diagnosis, recent studies employing next generation sequencing (NGS) have broadened the genetic spectrum associated with this phenotype, identifying on very rare occasions causative variants in a diverse group of genes, including CACNA1A.[3][4][5] CACNA1A variants are typically associated with familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA2) or spinocerebellar ataxia 6. CACNA1A encodes the a 1 subunit of the Ca v 2.1 calcium channel, especially abundant in Purkinje cells.Although recent studies have expanded the phenotypic spectrum of CACNA1A-related disorders, an HD-like presentation is not a widely-recognized feature of CACNA1A-related disease.[6][7][8] We presently report a patient with a typical HD-like presentation, who eventually developed episodic and progressive ataxia, and carried a heterozygous causative variant in CACNA1A.
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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 | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 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".