The Pathology of Primary Familial Brain Calcification: Implications for Treatment.
10.1007/s12264-022-00980-0
- Author:
Xuan XU
1
;
Hao SUN
2
;
Junyu LUO
2
;
Xuewen CHENG
1
;
Wenqi LV
3
;
Wei LUO
4
;
Wan-Jin CHEN
3
;
Zhi-Qi XIONG
1
;
Jing-Yu LIU
5
Author Information
1. Institute of Neuroscience, State Key Laboratory of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China.
2. College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China.
3. 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.
4. Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, China.
5. Institute of Neuroscience, State Key Laboratory of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China. liujy@ion.ac.cn.
- Publication Type:Review
- Keywords:
Causative gene;
Pathogenesis;
Preventive and therapeutic strategy;
Primary familial brain calcification
- MeSH:
Animals;
Brain Diseases/therapy*;
Xenotropic and Polytropic Retrovirus Receptor;
Brain/pathology*
- From:
Neuroscience Bulletin
2023;39(4):659-674
- CountryChina
- Language:English
-
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 epilepsy. 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 summarize the pathogenesis and potential preventive and therapeutic 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.
