{"title":"Recent study on primary familial brain calcification","authors":"You Chen, Zhidong Cen, W. Luo","doi":"10.3969/CJCNN.V17I7.1626","DOIUrl":null,"url":null,"abstract":"Primary familial brain calcification (PFBC), characterized by bilateral, symmetric calcifications in basal ganglia and other brain regions and visualized in neuroimaging and neuropsychiatric manifestations variable in type and severity, is a neurodegenerative disorder with clinical and genetic heterogeneity. The discovery of causative genes (namely SLC20A2, PDGFRB, PDGFB and XPR1) and functional studies indicated that PFBC may be related to inorganic phosphate transport dysfunction and blood-brain barrier deficiency. Since the understanding of PFBC has advanced dramatically in recent years, this review focuses on diagnosis, molecular genetics, genotype-phenotype relationship and treatment in PFBC. DOI: 10.3969/j.issn.1672-6731.2017.07.003","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"484-489"},"PeriodicalIF":0.0000,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国现代神经疾病杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3969/CJCNN.V17I7.1626","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Primary familial brain calcification (PFBC), characterized by bilateral, symmetric calcifications in basal ganglia and other brain regions and visualized in neuroimaging and neuropsychiatric manifestations variable in type and severity, is a neurodegenerative disorder with clinical and genetic heterogeneity. The discovery of causative genes (namely SLC20A2, PDGFRB, PDGFB and XPR1) and functional studies indicated that PFBC may be related to inorganic phosphate transport dysfunction and blood-brain barrier deficiency. Since the understanding of PFBC has advanced dramatically in recent years, this review focuses on diagnosis, molecular genetics, genotype-phenotype relationship and treatment in PFBC. DOI: 10.3969/j.issn.1672-6731.2017.07.003
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