The Pathology of Primary Familial Brain Calcification: Implications for Treatment / 神经科学通报·英文版
Neuroscience Bulletin
;
(6): 659-674, 2023.
Artigo
em Inglês
| WPRIM
| ID: wpr-982427
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Encéfalo
/
Encefalopatias
/
Receptor do Retrovírus Politrópico e Xenotrópico
Limite:
Animais
Idioma:
Inglês
Revista:
Neuroscience Bulletin
Ano de publicação:
2023
Tipo de documento:
Artigo
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