Clinical, neuroimaging, and longitudinal progression characteristics of GBA1-associated Parkinson’s disease in a Northeast China cohort

GBA1 is a common genetic risk factor for Parkinson’s disease (PD), but PET/CT and longitudinal data in Chinese populations remain limited. We aimed to determine the frequency of GBA1-associated PD (GBA1-PD) in Northeast China and compare its clinical features, PET/CT images, and 3-year progression with non-GBA1-associated PD (NGBA1-PD). In this single-center observational cohort, 301 patients with PD underwent whole-exome sequencing, orthogonal validation and clinical assessment; 176 underwent 11 C-CFT and 18 F-FDG PET/CT, and 271 completed follow-up. GBA1 variants were identified in 25 patients (8.31%). Compared with NGBA1-PD, GBA1-PD showed greater motor and cognitive impairment, higher PIGD proportion, worse sleep-related symptoms, lower striatal 11 C-CFT uptake, and lower metabolism in the precuneus. Over 3 years, GBA1-PD showed trends toward faster motor and mood deterioration, although these differences did not remain significant after FDR correction. These findings suggest distinct clinical and imaging features of GBA1-PD and potential value for prognostic stratification. Clinical trial number : Not applicable.