首页|The Pathology of Primary Familial Brain Calcification:Implications for Treatment

The Pathology of Primary Familial Brain Calcification:Implications for Treatment

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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.

Primary familial brain calcificationCausative genePathogenesisPreventive and therapeutic strategy

Xuan Xu、Hao Sun、Junyu Luo、Xuewen Cheng、Wenqi Lv、Wei Luo、Wan-Jin Chen、Zhi-Qi Xiong、Jing-Yu Liu

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Institute of Neuroscience,State Key Laboratory of Neuroscience,Center for Excellence in Brain Science and Intelligence Technology,Chinese Academy of Sciences,Shanghai 200031,China

College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan 430074,China

Department of Neurology and Institute of Neurology of First Affiliated Hospital,Institute of Neuroscience,and Fujian Key Laboratory of Molecular Neurology,Fujian Medical University,Fuzhou 350005,China

Department of Neurology,The Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou,310009,China

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National Natural Science Foundation of ChinaShanghai Municipal Science and Technology Major ProjectInnovation Incentive Foundation(Center for Excellence in Brain Science and Intelligence Technology,Chinese Academy of Scienc

318712622018SHZDZX05

2023

10.1007/s12264-022-00980-0

神经科学通报(英文版)
中国科学院上海生命科学研究院

神经科学通报(英文版)

CSTPCDCSCD
影响因子：0.741
ISSN：1673-7067
年,卷(期)：2023.39(4)
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