Chinese Journal Of Clinical Medicine, Volume. 32, Issue 3, 524(2025)

GBA1 Thr408Met mutation in a patient with Parkinson's disease

ZHAO Yi1, LI Junwen1, JU Chunlian1, QIU Weibin1, ZUO Bo1, YANG Zhigang2、*, and LI Yansheng3
Author Affiliations
  • 1Department of Neurology, Shanghai Xuhui Central Hospital, Shanghai 200237, China
  • 2Department of Neurosurgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China
  • 3Department of Neurology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
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    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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    Paper Information

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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)

    DOI:10.12025/j.issn.1008-6358.2025.20241363

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