Clinical, neuroimaging, and longitudinal progression characteristics of GBA1-associated Parkinson's disease in a Northeast China cohort.
- 1Department of Neurology and Neuroscience Center, the First Hospital of Jilin University, Changchun, Jilin, China.
- 2Department of Neurology and Neuroscience Center, the First Hospital of Jilin University, Changchun, Jilin, China. [email protected].
Abstract
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 ¹¹C-CFT and ¹⁸F-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 ¹¹C-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.
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BibTeX
@article{du2026clinical,
title = {{Clinical, neuroimaging, and longitudinal progression characteristics of GBA1-associated Parkinson's disease in a Northeast China cohort.}},
author = {Xiaoxiao Du and Xinyu Wang and Pingping Shen and Yue Liang and Xiaoyue Lin and Jun Chen and Lin Pan and Ying Zhang},
journal = {NPJ Parkinson's disease},
year = {2026},
month = oct,
doi = {10.1038/s41531-026-01597-0},
url = {https://europepmc.org/article/MED/42971995},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Clinical, neuroimaging, and longitudinal progression characteristics of GBA1-associated Parkinson's disease in a Northeast China cohort.
AU - Xiaoxiao Du
AU - Xinyu Wang
AU - Pingping Shen
AU - Yue Liang
AU - Xiaoyue Lin
AU - Jun Chen
AU - Lin Pan
AU - Ying Zhang
PY - 2026
DA - 2026/10/01
JO - NPJ Parkinson's disease
DO - 10.1038/s41531-026-01597-0
UR - https://europepmc.org/article/MED/42971995
AB - 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 ¹¹C-CFT and ¹⁸F-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 ¹¹C-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.
SN - 2373-8057
ER -