Biochemical consequences of glucocerebrosidase 1 mutations in Parkinson’s disease  

作　　者：Jeong Hyun Yoon Chiao-Yin Lee Anthony HV Schapira 

机构地区：[1]Department of Clinical and Movement Neurosciences,University College London Institute of Neurology [2]Faculty of Medicine,Imperial College London [3]Aligning Science Across Parkinson's(ASAP)Collaborative Research Network

出　　处：《Neural Regeneration Research》2024年第4期725-727,共3页中国神经再生研究（英文版）

基　　金：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,United States(to AHVS)。

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).

关 键 词：cerebro consequences 

分 类 号：R742.5[医药卫生—神经病学与精神病学]