The Pathology of Primary Familial Brain Calcification: Implications for Treatment
Xuan Xu1 · Hao Sun2 · Junyu Luo2 · Xuewen Cheng1 · Wenqi Lv3 · Wei Luo4 · Wan‑Jin Chen3 · Zhi‑Qi Xiong1 · Jing‑Yu Liu11 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 Afliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou 350005, China
4 Department of Neurology, The Second Afliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, China
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.
Keywords
Primary familial brain calcifcation; Causative gene; Pathogenesis; Preventive and therapeutic strategy
