中国神经再生研究(英文版) ›› 2024, Vol. 19 ›› Issue (4): 725-727.doi: 10.4103/1673-5374.382238

• 观点:退行性病与再生 • 上一篇    下一篇

帕金森病中葡萄糖脑苷脂酶1突变的生化后果

  

  • 出版日期:2024-04-15 发布日期:2023-09-15

Biochemical consequences of glucocerebrosidase 1 mutations in Parkinson’s disease

Jeong Hyun Yoon, Chiao-Yin Lee, Anthony HV Schapira*   

  1. Department of Clinical and Movement Neurosciences, University College London Institute of Neurology, London, UK (Yoon JH, Lee CY, Schapira AHV)
    Faculty of Medicine, Imperial College London, London, UK (Yoon JH)
    Aligning Science Across Parkinson’s (ASAP) Collaborative Research Network, Chevy Chase, MD, USA (Lee CY, Schapira AHV)
  • Online:2024-04-15 Published:2023-09-15
  • Contact: Anthony HV Schapira, MD, FRCP, DSc, FMedSci, a.schapira@ucl.ac.uk.
  • Supported by:
    This work was supported by Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom, WC1N 3BG & Aligning Science Across Parkinson’s (ASAP) Collaborative Research Network, Chevy Chase, MD, USA (to AHVS).

摘要: https://orcid.org/0000-0002-3018-3966 (Anthony HV Schapira)

Abstract: Parkinson’s disease (PD, OMIM #168600) is a common neurodegenerative disorder with a global prevalence of approximately 8.5 million. PD is characterized by four cardinal motor symptoms: bradykinesia, rigidity, resting tremor, and subsequently by postural instability. It usually involves non-motor symptoms such as rapid eye movement sleep disorder, dementia, anosmia, and autonomic dysfunction. The gene glucocerebrosidase 1 (GBA1), which encodes the lysosomal enzyme glucocerebrosidase (GCase) (IUBMB: EC 3.2.1.45), shows strong linkage with PD; variants of GBA1 are the commonest genetic association with PD (Sidransky et al., 2009). Several mechanisms may underlie the relationship between GBA1 mutations/variants and the molecular pathology of PD (Figure 1A and B).