Publication date: Jul 04, 2025
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene associate with familial and sporadic Parkinson’s disease (PD). While various LRRK2 allelic variants have been studied, characteristics of R1441C carriers remain underexplored. We compared PD patients carrying the R1441C mutation (90% Israeli Arabs) to those carrying the G2019S (70% Ashkenazi Jews) and R1441G (42% Basque) variants. R1441C carriers exhibited a distinct clinical phenotype characterized by severe motor and non-motor symptoms and worse scores on the Montreal Cognitive Assessment. These findings highlight the importance of ethnic diversity and genetic stratification in PD research. These results need confirmation in larger, more diverse samples.
| Concepts | Keywords |
|---|---|
| Basque | cognitive dysfunction |
| G2019s | genetic variation |
| Parkinsons | human |
| Research | LRRK2 protein |
| Severe | mutation |
| Parkinson’s disease |
Semantics
| Type | Source | Name |
|---|---|---|
| disease | MESH | Parkinson’s disease |
| drug | DRUGBANK | L-Leucine |
| disease | MESH | cognitive dysfunction |