Absence of the LRRK2 mutation in Emirati Parkinson’s disease patients in contrast to other Arab populations
Bibliographic record
Abstract
Background The role of genetic factors in the pathogenesis of Parkinson’s disease (PD) is characterized by heterogeneity in specific genetic variations and their prevalence across different populations and geographic locations. Objective To investigate the frequency of the Leucine-rich repeat kinase 2 ( LRRK2 ) mutation, a well-known genetic risk factor for PD, within Emirati patients. Methods Emirati PD patients were recruited from the United Arab Emirates between September 2022 and May 2024. Blood samples were systematically screened for mutations across all 52 exons of the LRRK2 gene. Results The LRRK2 mutation was not detected in any of the 50 Emirati PD patients (mean age 64.2 ± 14.1 years, of whom 56% are male) examined. Conclusion The absence of the LRRK2 and specifically the G2019S mutation in Emirati PD patients corroborates findings from Saudi Arabia and indicates a distinct genetic pattern compared to other Arab regions like Egypt and Maghreb (North African) countries, where the G2019S mutation prevalence ranges from 10 to 40%. This underscores the need for further research to unveil alternative genetic determinants specific to the Emirati PD population.
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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 | 0.001 | 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) | 0.003 | 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".