原发性家族性脑钙化研究进展  

Recent study on primary familial brain calcification

作　　者：陈悠[1] 岑志栋[1] 罗巍[1] 

机构地区：[1]浙江大学医学院附属第二医院神经内科,杭州310009

出　　处：《中国现代神经疾病杂志》2017年第7期484-489,共6页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：国家自然科学基金资助项目(项目编号:81571089)~~

摘　　要：原发性家族性脑钙化是一组以双侧对称性基底节区及其他脑区钙化为影像学特点的神经变性病,可伴多种神经精神症状,具有高度临床和遗传异质性。目前已知的4种致病基因(SLC20A2、PDGFRB、PDGFB、XPR1)及其相关功能研究提示原发性家族性脑钙化可能与细胞内外无机磷转运障碍和血-脑屏障损害相关。本文拟对近年原发性家族性脑钙化诊断标准、分子遗传学机制、基因型与临床表型相关性、治疗等方面研究进展进行概述。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 SLC2OA2, 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.

关 键 词：钙质沉着症 脑疾病 综述 

分 类 号：R742[医药卫生—神经病学与精神病学]