Neural Regeneration Research ›› 2024, Vol. 19 ›› Issue (4): 725-727.doi: 10.4103/1673-5374.382238

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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).

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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).