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The Pathology of Primary Familial Brain Calcification: Implications for Treatment.
Xu, Xuan; Sun, Hao; Luo, Junyu; Cheng, Xuewen; Lv, Wenqi; Luo, Wei; Chen, Wan-Jin; Xiong, Zhi-Qi; Liu, Jing-Yu.
Afiliación
  • Xu X; Institute of Neuroscience, State Key Laboratory of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China.
  • Sun H; College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China.
  • Luo J; College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China.
  • Cheng X; Institute of Neuroscience, State Key Laboratory of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China.
  • Lv W; 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.
  • Luo W; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, China.
  • Chen WJ; 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.
  • Xiong ZQ; Institute of Neuroscience, State Key Laboratory of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China.
  • Liu JY; 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.
Neurosci Bull ; 39(4): 659-674, 2023 Apr.
Article en En | MEDLINE | ID: mdl-36469195
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.
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Texto completo: 1 Colección: 01-internacional Asunto principal: Encefalopatías Tipo de estudio: Prognostic_studies Límite: Animals Idioma: En Revista: Neurosci Bull Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China
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Texto completo: 1 Colección: 01-internacional Asunto principal: Encefalopatías Tipo de estudio: Prognostic_studies Límite: Animals Idioma: En Revista: Neurosci Bull Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China