Abstract
Primary familial brain calcification(PFBC)is an inherited neurodegenerative disorder mainly characterized by progressive calcium deposition bilaterally in the brain,accompanied by various symptoms,such as dystonia,ataxia,parkinsonism,dementia,depression,headaches,and epi-lepsy.Currently,the etiology of PFBC is largely unknown,and no specific prevention or treatment is available.During the past 10 years,six causative genes(SLC20A2,PDGFRB,PDGFB,XPR1,MYORG,and JAM2)have been identified in PFBC.In this review,considering mechanistic studies of these genes at the cellular level and in animals,we sum-marize the pathogenesis and potential preventive and thera-peutic strategies for PFBC patients.Our systematic analysis suggests a classification for PFBC genetic etiology based on several characteristics,provides a summary of the known composition of brain calcification,and identifies some potential therapeutic targets for PFBC.
基金项目
National Natural Science Foundation of China(31871262)
Shanghai Municipal Science and Technology Major Project(2018SHZDZX05)
Innovation Incentive Foundation(Center for Excellence in Brain Science and Intelligence Technology,Chinese Academy of Scienc()
维普
万方数据