detalle del documento
IDENTIFICACIÓN
oai:pubmedcentral.nih.gov:1007...
Tema
ReviewAutor
Xu, Xuan Sun, Hao Luo, Junyu Cheng, Xuewen Lv, Wenqi Luo, Wei Chen, Wan-Jin Xiong, Zhi-Qi Liu, Jing-YuLangue
enEditor
Springer Nature Singapore
Categoría
Neuroscience Bulletin
Año
2022
fecha de cotización
12/4/2023
Palabras clave
calcification brainResumen
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.
Xu, Xuan,Sun, Hao,Luo, Junyu,Cheng, Xuewen,Lv, Wenqi,Luo, Wei,Chen, Wan-Jin,Xiong, Zhi-Qi,Liu, Jing-Yu, 2022, The Pathology of Primary Familial Brain Calcification: Implications for Treatment, Springer Nature Singapore
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