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。

关键词: 钙质沉着症, 脑疾病, 综述

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.

Key words: Calcinosis, Brain diseases, Review