Ataxia‐telangiectasia: A review of movement disorders, clinical features and genotype correlations ‐ Addendum
Bibliographic record
Abstract
Since the online publication of our article1, two relevant reports have been published that merit mention. In one, a 27 year old woman with a past history of recurrent infections and elevated AFP level developed segmental dystonia that demonstrated a protracted and indolent course. A compound heterozygote mutation was state discovered producing a nonsense-missense mutation in ATM. No determination of kinase activity was performed2. The second particularly interesting case with a compound ATM inframe deletion and missense mutation presented with progressive trunk ataxia beginning at age 16 months, elevated AFP and no residual ATM kinase activity, consistent with a classical form of A-T. However, surprisingly, the ataxia began to improve by age 13 and almost completely remitted by the third decade leaving only mild stable chorea3. A transcriptome analysis revealed that while 90% of transcripts were expressed as in patients with the classic AT presentation, 10% of transcripts were expressed as in healthy controls suggesting the possible activity of modifying protein pathways resulting in the benign phenotype. These cases undoubtedly support the evidence of clinical heterogeneity in A-T; however they further emphasise that genotype is not the predictive factor of prognosis. ATM kinase activity predicts phenotype in most cases and other downstream effectors may rescue or modulate pathogenic phenotypes. The second case further emphasizes that clinical features, particularly ataxia, may actually remit as described in at least 2 patients in the Canadian-Mennonite population4 with early onset persistent segmental or generalized dystonia and ataxia in childhood that later resolved spontaneously. The evidence points to a more robust phenotypic heterogeneity including remitting ataxia in patients with mixed movement disorders.
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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) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| 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".