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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    References(27)

    [1] [1] MELE B, VAN S, HOLROYD-LEDUC J, et al. Diagnosis, treatment and management of apathy in Parkinson's disease: a scoping review[J]. BMJ Open, 2020, 10(9): e037632.

    [2] [2] MORRIS H R, SPILLANTINI M G, SUE C M, et al. The pathogenesis of Parkinson's disease[J]. Lancet, 2024, 403(10423): 293-304.

    [3] [3] CHATTERJEE D, KRAINC D. Mechanisms of glucocerebrosidase dysfunction in Parkinson's disease[J]. J Mol Biol, 2023, 435(12): 168023.

    [4] [4] SEO B A, KIM D, HWANG H, et al. TRIP12 ubiquitination of glucocerebrosidase contributes to neurodegeneration in Parkinson's disease[J]. Neuron, 2021, 109(23): 3758-3774.

    [5] [5] SIDRANSKY E, NALLS M A, AASLY J O, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease[J]. N Engl J Med, 2009, 361(17): 1651-1661.

    [6] [6] BO R X, LI Y Y, ZHOU T T, et al. The neuroinflammatory role of glucocerebrosidase in Parkinson's disease[J]. Neuropharmacology, 2022, 207: 108964.

    [7] [7] GOETZ C G, TILLEY B C, SHAFTMAN S R, et al. Movement disorder society-sponsored revision of the unified Parkinson's disease rating scale (MDS-UPDRS): scale presentation and clinimetric testing results[J]. Mov Disord, 2008, 23(15): 2129-2170.

    [9] [9] SMITH L, SCHAPIRA A H V. GBA variants and Parkinson disease: mechanisms and treatments[J]. Cells, 2022, 11(8): 1261.

    [10] [10] BEN-SHLOMO Y, DARWEESH S, LLIBRE-GUERRA J, et al. The epidemiology of Parkinson's disease[J]. Lancet, 2024, 403(10423): 283-292.

    [13] [13] ABELIOVICH A, HEFTI F, SEVIGNY J. Gene therapy for Parkinson's disease associated with GBA1 mutations[J]. J Parkinsons Dis, 2021, 11(s2): S183-S188.

    [14] [14] ZHANG Y, SHU L, SUN Q Y, et al. Integrated genetic analysis of racial differences of common GBA variants in Parkinson's disease: a meta-analysis[J]. Front Mol Neurosci, 2018, 11: 43.

    [15] [15] CHEN J, LI W, ZHANG T, et al. Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population[J]. PLoS One, 2014, 9(12): e115747.

    [16] [16] TOLOSA E, GARRIDO A, SCHOLZ S W, et al. Challenges in the diagnosis of Parkinson's disease[J]. Lancet Neurol, 2021, 20(5): 385-397.

    [17] [17] CERRI S, MUS L, BLANDINI F. Parkinson's disease in women and men: what's the difference?[J]. J Parkinsons Dis, 2019, 9(3): 501-515.

    [18] [18] ESFANDIARY A, FINKELSTEIN D I, VOELCKER N H, et al. Clinical sphingolipids pathway in Parkinson's disease: from GCase to integrated-biomarker discovery[J]. Cells, 2022, 11(8): 1353.

    [19] [19] DEN HEIJER J M, KRUITHOF A C, MOERLAND M, et al. A phase 1B trial in GBA1-associated Parkinson's disease of BIA-28-6156, a glucocerebrosidase activator[J]. Mov Disord, 2023, 38(7): 1197-1208.

    [20] [20] KIM S, WONG Y C, GAO F D, et al. Dysregulation of mitochondria-lysosome contacts by GBA1 dysfunction in dopaminergic neuronal models of Parkinson's disease[J]. Nat Commun, 2021, 12(1): 1807.

    [21] [21] ZHANG C L, HAN Q W, CHEN N H, et al. Research on developing drugs for Parkinson's disease[J]. Brain Res Bull, 2021, 168: 100-109.

    [22] [22] REN J R, YAN L, ZHOU H, et al. Unraveling neurotransmitter changes in de novo GBA-related and idiopathic Parkinson's disease[J]. Neurobiol Dis, 2023, 185: 106254.

    [23] [23] PETERSCHMITT M J, SAIKI H, HATANO T, et al. Safety, pharmacokinetics, and pharmacodynamics of oral venglustat in patients with Parkinson's disease and a GBA mutation: results from part 1 of the randomized, double-blinded, placebo-controlled MOVES-PD trial[J]. J Parkinsons Dis, 2022, 12(2): 557-570.

    [24] [24] RAJAN S, KAAS B. Parkinson's disease: risk factor modification and prevention[J]. Semin Neurol, 2022, 42(5): 626-638.

    [25] [25] YE H, ROBAK L A, YU M G, et al. Genetics and pathogenesis of Parkinson's syndrome[J]. Annu Rev Pathol, 2023, 18: 95-121.

    [26] [26] ANDICA C, KAMAGATA K, UCHIDA W, et al. Fiber-specific white matter alterations in Parkinson's disease patients with GBA gene mutations[J]. Mov Disord, 2023, 38(11): 2019-2030.

    [27] [27] KHAN A U, AKRAM M, DANIYAL M, et al. Awareness and current knowledge of Parkinson's disease: a neurodegenerative disorder[J]. Int J Neurosci, 2019, 129(1): 55-93.

    [28] [28] ROSETY I, ZAGARE A, SARAIVA C, et al. Impaired neuron differentiation in GBA-associated Parkinson's disease is linked to cell cycle defects in organoids[J]. NPJ Parkinsons Dis, 2023, 9(1): 166.

    [29] [29] MULLIN S, SMITH L, LEE K, et al. Ambroxol for the treatment of patients with Parkinson disease with and without glucocerebrosidase gene mutations: a nonrandomized, noncontrolled trial[J]. JAMA Neurol, 2020, 77(4): 427-434.

    [30] [30] RICHTER F, FLEMING S M, WATSON M, et al. A GCase chaperone improves motor function in a mouse model of synucleinopathy[J]. Neurotherapeutics, 2014, 11(4): 840-856.

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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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