Evaluation of Cognitive Disorders in Huntington’s Disease and Their Relationship with Motor Symptoms and Trinucleotide Repeat Expansion
Bibliographic record
Abstract
Objectives: Huntington's disease (HD), characterized by choreiform movements, psychiatric problems, and dementia, is an inherited progressive neurodegenerative disorder.While HD is typically perceived as a motor disorder, cognitive decline could manifest before the clinical symptoms.Cognitive impairments might appear as emotional instability, decreased vocabulary, or impaired executive functions.Herein, we aimed to evaluate the cognitive findings of our patients diagnosed with HD and the relationship with disease parameters.Methods: Our study included 15 patients and fifteen controls.To determine the clinical findings of the patients, the unified HD rating scale (UHDRS) was administered, and total motor score (TMS), independence scale scores, and functional capacity scores were calculated.To assess the cognitive status of individuals, the Montreal Cognitive Assessment Battery Turkish validated form (MOCA-TR), Stroop test Turkish validated form (Stroop test TBAG form), and Symbol Digit Modalities Test were conducted.Results: The MoCA-TR scores were significantly reduced in HD patients compared to controls (p<0.001).Among all patients, there was a notable elongation in completion time for the Stroop test TBAG form than controls (p<0.05).The MoCA-TR showed a robust negative correlation with the TMS while exhibiting a marked positive correlation with the independence scale score and functional capacity.Conversely, the MoCA-TR demonstrated a moderate negative correlation with the disease burden score (DBS) and a pronounced negative relationship with the progression rate (p<0.05).A strong opposing correlation was observed between cytosine-adenine-guanine (CAG) repeats and the age of disease onset, whereas a highly significant positive relationship emerged between CAG repeats and the DBS (p<0.05). Conclusion:We have demonstrated a strong correlation between patients' cognitive scores and disease clinical findings.Patients' cognitive scores have also been shown to impact disease burden and disease progression rate.The designation of cognitive impairment in the early stages could contribute to personalized disease-modifying treatment strategies.
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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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| 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) | 0.001 | 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 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".