Chinese Journal Of Clinical Medicine, Volume. 32, Issue 3, 524(2025)
GBA1 Thr408Met mutation in a patient with Parkinson's disease
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.
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ZHAO Yi, LI Junwen, JU Chunlian, QIU Weibin, ZUO Bo, YANG Zhigang, LI Yansheng. GBA1 Thr408Met mutation in a patient with Parkinson's disease[J]. Chinese Journal Of Clinical Medicine, 2025, 32(3): 524
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Received: Nov. 30, 2024
Accepted: Aug. 22, 2025
Published Online: Aug. 22, 2025
The Author Email: YANG Zhigang (yang.zhigang1@zs-hospital.sh.cn)