Work

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

Year: 2026

Type: article

Abstract: GBA variants are the most common genetic risk factors for Parkinson's disease (PD), but PET data and longitudinal clinical data in Chinese populations remain limited. We aimed to determine the frequency of GBA-associated PD (GBA-PD) in Northeast China and compare its clinical features, PET findings, and 3-year progression with non-GBA-associated PD (NGBA-PD). In this single-center observational cohort, 301 patients with PD underwent whole-exome sequencing and standardized clinical assessment; 176 underwent 11 C-CFT and 18 F-FDG PET/CT, and 271 completed follow-up. GBA variants were identified in 25 patients (8.31%). Compared with NGBA-PD, GBA-PD showed earlier onset, greater motor and cognitive impairment, worse sleep-related symptoms, and lower striatal 11 C-CFT uptake, indicating more severe dopaminergic dysfunction. Over 3 years, GBA-PD showed faster worsening of motor, cognitive, and mood measures. These findings support GBA-PD as a more aggressive PD subtype and may improve prognostic stratification.

Source: npj Parkinson s Disease

DOI: 10.1038/s41531-026-01597-0