LRRK2 R1628P varyantı taşıyan PD hastalarının klinik özellikleri

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Abstract Parkinson’s Disease (PD) presents devastating challenges for the aging society. Variations in the LRRK2 gene, including R1628Pin Asian populations have been linked to PD risk yet remain under-explored in clinical presentations. We assessed clinical manifestations in R1628P carriers versus non-carriers in an Asian PD cohort. Our study found that LRRK2 R1628Pcarriers had significantly lower Non-Motor Symptom Scale (NMSS) Total score (10 vs 15 p=0.01) than non-carriers. Specifically, NMSS domain 2 score (sleep/fatigue) was lower in carriers compared to non-carriers (0 vs 1, p=0.02), with no significant differences in other NMSS domains. This study underscores the importance of analysing specific LRRK2 variants, to characterise accurately the influence of unique genetic variation of PD relevant gene and identify potential therapeutic target.

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