NeuralCipher Research overview
The text below is the source article’s original abstract under a verified reuse license. cc by
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.
Scientific assessment
Research question
Assess the question within the original study’s scope.
Methods & sample
Check the source article for study design and sample details.
Key findings
An editorially approved findings summary is not yet published for this record.
Limitations
Generalizability, bias and clinical meaning require separate assessment.
Methods, samples and clinical conclusions are not inferred from bibliographic metadata.