[P4–198]: STUDY ON COGNITIVE IMPAIRMENTS IN PATIENTS CARRYING LOW‐RANGE EXPANSION OF SPINOCEREBELLAR ATAXIA TYPE 17 GENE
Bibliographic record
Abstract
Spinocerebellar ataxia type17 (SCA17) is one of the most heterogeneous clinical expressions, in which it often exhibits several non-ataxic features including cognitive impairment and parkinsonism. It is caused by abnormal CAG/CAA repeat expansions within the TATA-binding protein gene (TBP). The upper normal limit of CAG/CAA is still inconclusive. Since low-range expansion of TBP, generally including 42–44 repeats, was observed in patients with Parkinson's disease and cerebellar degeneration as well as healthy subjects. The aim of this study was to analyze the relationship between low-range expansion of TBPand cognitive impairment. This was a cross-sectional, case-control study. Seven carriers of low-range expansion of TBPand 22 control subjects were recruited. The patients’ demographic data were recorded and all subjects underwent a comprehensive assessment of neuropsychological function. The mean age of carriers of low-range expansion allele was 74 years. Five carriers (71%) developed pakinsonian and/or cerebellar features. All carriers (100%) had abnormal MoCA and 3 of them (42%) had abnormal MMSE. The carrier group had significant lower mean MMSE score (24.57) and MOCA score (20.43) than control group (27.5 and 25.6 respectively). The carrier group performed significantly worse than the control group in Digit Symbol Test, Recognition Memory Test, Stroop Test, Trail Making Test and Clock Drawing Test. The study demonstrates that low-range expansion of TBP as low as 41 repeats appears to be pathogenic. It may be associated with a clinical onset at very advanced age, therefore, an overlap between disease and control in association with TBPrepeat expansion within this range was often observed by previous case-control cohorts.
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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) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| 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".