The Pathology of Primary Familial Brain Calcification: Implications for Treatment.
Xuan XuHao SunJunyu LuoXuewen ChengWenqi LvWei LuoWan-Jin ChenZhi-Qi XiongJing Yu LiuPublished in: Neuroscience bulletin (2022)
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.
Keyphrases
- resting state
- genome wide
- white matter
- chronic kidney disease
- end stage renal disease
- early onset
- functional connectivity
- cerebral ischemia
- multiple sclerosis
- machine learning
- ejection fraction
- peritoneal dialysis
- mild cognitive impairment
- prognostic factors
- sleep quality
- parkinson disease
- risk assessment
- deep brain stimulation
- patient reported outcomes
- brain injury
- genome wide identification
- case control