GBA1 Thr408Met mutation in a patient with Parkinson’s disease
10.12025/j.issn.1008-6358.2025.20241363
- VernacularTitle:GBA1基因突变帕金森病1例报告
- Author:
Yi ZHAO
1
;
Junwen LI
1
;
Chunlian JU
1
;
Weibin QIU
1
;
Bo ZUO
1
;
Zhigang YANG
2
;
Yansheng LI
3
Author Information
1. Department of Neurology, Shanghai Xuhui Central Hospital, Shanghai 200237, China.
2. Department of Neurosurgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
3. Department of Neurology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
- Publication Type:Clinicalcaseanalysis
- Keywords:
Parkinson’s disease;
GBA1 gene mutation;
pathogenesis;
diagnosis;
treatment;
prognosis
- From:
Chinese Journal of Clinical Medicine
2025;32(3):524-528
- CountryChina
- Language:Chinese
-
Abstract:
GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing, leading to a diagnosis of GBA1-associated PD. The patient’s motor symptoms were primarily characterized by bradykinesia and rigidity, without significant cognitive decline. Treatment with low-dose levodopa combined with a dopamine agonist resulted in significant symptomatic improvement.
