Biochemical consequences of glucocerebrosidase 1 mutations in Parkinson's disease
Jeong Hyun Yoon1
Chiao-Yin Lee2
Anthony HV Schapira2
1.Department of Clinical and Movement Neurosciences,University College London Institute of Neurology,London,UK;Faculty of Medicine,Imperial College London,London,UK2.Department of Clinical and Movement Neurosciences,University College London Institute of Neurology,London,UK;Aligning Science Across Parkinson's(ASAP)Collaborative Research Network,Chevy Chase,MD,USA
摘要：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).
机标关键词：parkinsonebrosidasglucbiochemicalconsequencesdiseasemutations
论文发表日期：2024-04-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：3( 725-727 )