Pre motor symptoms of Parkinson disease in Argentinean patients with type 1 Gaucher disease. Preliminary report (P6.380)
Bibliographic record
Abstract
Objective:To analyze the occurrence of prodromal markers of Parkinson disease (PD) in a cohort with type 1 Gaucher disease (GD). Background:Mutations in the glucocerebrosidase (GBA) gene have been reported as a common risk factor for the development of PD not only in GD patients but also and more frequently in GBA mutation positive carriers. Methods:After signed informed consent, we evaluated 26 patients with type 1GD under enzymatic replacement therapy (ERT) from a cohort of the Hospital Ricardo Gutierrez Gaucher Disease Study Group at the Buenos Aires City, Argentina. We performed an extensive neurological examination, including cognitive assessment by MoCa and MMSE and a questionnaire performed ad hoc to identify non-motor Parkinsons disease symptoms Results:Parasomnias were reported by 7 patients (26.92[percnt]), REM Behavior Disorders (RBD) in 1 (3.84[percnt]), hyposmia in 1(3.84[percnt]), constipation in 2 (7.69[percnt]) and depression in 3 cases (11.53[percnt]). Cognition was assessed in 18 patients by Montreal Cognitive assessment-MoCa and MMSE; 8 patients showed cognitive impairment (44.44[percnt]). Only one patient showed tremor 1(3.84[percnt]). No patient fulfilled PD diagnostic criteria (Queen Square brain bank criteria). Conclusions:The identification of prodromal markers of PD in Type 1 GD suggests that this population represent a very interesting population to explore different biomarkers and to test potential neuroprotective therapies in PD.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 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) | 0.002 | 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".