Sidransky Sendromu ve İdiyopatik Parkinson Hastalığı: Arnavut Hastalarda Karşılaştırmalı İki Yıllık Klinik Analiz

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Abstract Background Mutations in the glucocerebrosidase (GBA) gene are among the strongest genetic risk factors for Parkinson’s disease (PD), contributing to earlier onset, more severe nonmotor symptoms, and faster disease progression. This study aimed to evaluate the clinical differences between GBA + and GBA- PD patients. Method This retrospective cohort study was conducted at the Neurology Department, University Hospital Center, Tirana, Albania, and included 42 PD patients (9 GBA+; 33 GBA-) with a two-year follow-up (January 2022–January 2024). Motor symptoms were assessed via the Unified Parkinson’s Disease Rating Scale (UPDRS Part III) and Hoehn & Yahr (H&Y) staging. Additionally, nonmotor symptoms, and nonmotor complications were evaluated. Results GBA + patients presented earlier disease onset (49.0 ± 10.8 vs. 63.7 ± 9.1 years, p = 0.003), a greater prevalence of depression (p -OFF scores (p = 0.004). Conclusion GBA mutations are associated with distinct disease courses, poorer treatment response, and increased neuropsychiatric symptoms. These findings highlight the need for genetic screening and mutation-specific treatment strategies in PD management.

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