The Pathology of Primary Familial Brain Calcification:Implications for Treatment
作者机构：Institute of NeuroscienceState Key Laboratory of NeuroscienceCenter for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghai200031China College of Life Science and TechnologyHuazhong University of Science and TechnologyWuhan430074China Department of Neurology and Institute of Neurology of First Affiliated HospitalInstitute of Neuroscienceand Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhou350005China Department of NeurologyThe Second Affiliated HospitalZhejiang University School of MedicineHangzhou310009China
出 版 物：《Neuroscience Bulletin》 (神经科学通报（英文版）)
年 卷 期：2023年第39卷第4期
页 面：659-674页
核心收录：
学科分类：1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100204[医学-神经病学] 10[医学]
基 金：supported by the National Natural Science Foundation of China(31871262) the Shanghai Municipal Science and Technology Major Project(2018SHZDZX05) the Innovation Incentive Foundation(Center for Excellence in Brain Science and Intelligence Technology,Chinese Academy of Sciences,Shanghai,China)
主 题：Primary familial brain calcification Causative gene Pathogenesis Preventive and therapeutic strategy
摘 要：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 ***,the etiology of PFBC is largely unknown,and no specific prevention or treatment is *** the past 10 years,six causative genes(SLC20A2,PDGFRB,PDGFB,XPR1,MYORG,and JAM2)have been identified in *** this review,considering mechanistic studies of these genes at the cellular level and in animals,we summarize the pathogenesis and potential preventive and therapeutic strategies for PFBC *** 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.
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