The Pathology of Primary Familial Brain Calcification: Implications for Treatment

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, t...

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Autores principales: Xu, Xuan, Sun, Hao, Luo, Junyu, Cheng, Xuewen, Lv, Wenqi, Luo, Wei, Chen, Wan-Jin, Xiong, Zhi-Qi, Liu, Jing-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073384/
https://www.ncbi.nlm.nih.gov/pubmed/36469195
http://dx.doi.org/10.1007/s12264-022-00980-0
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author Xu, Xuan
Sun, Hao
Luo, Junyu
Cheng, Xuewen
Lv, Wenqi
Luo, Wei
Chen, Wan-Jin
Xiong, Zhi-Qi
Liu, Jing-Yu
author_facet Xu, Xuan
Sun, Hao
Luo, Junyu
Cheng, Xuewen
Lv, Wenqi
Luo, Wei
Chen, Wan-Jin
Xiong, Zhi-Qi
Liu, Jing-Yu
author_sort Xu, Xuan
collection PubMed
description 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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spelling pubmed-100733842023-04-06 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 Neurosci Bull Review 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. Springer Nature Singapore 2022-12-05 /pmc/articles/PMC10073384/ /pubmed/36469195 http://dx.doi.org/10.1007/s12264-022-00980-0 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Review
Xu, Xuan
Sun, Hao
Luo, Junyu
Cheng, Xuewen
Lv, Wenqi
Luo, Wei
Chen, Wan-Jin
Xiong, Zhi-Qi
Liu, Jing-Yu
The Pathology of Primary Familial Brain Calcification: Implications for Treatment
title The Pathology of Primary Familial Brain Calcification: Implications for Treatment
title_full The Pathology of Primary Familial Brain Calcification: Implications for Treatment
title_fullStr The Pathology of Primary Familial Brain Calcification: Implications for Treatment
title_full_unstemmed The Pathology of Primary Familial Brain Calcification: Implications for Treatment
title_short The Pathology of Primary Familial Brain Calcification: Implications for Treatment
title_sort pathology of primary familial brain calcification: implications for treatment
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073384/
https://www.ncbi.nlm.nih.gov/pubmed/36469195
http://dx.doi.org/10.1007/s12264-022-00980-0
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