Primary familial brain calcification （PFBC） is a rare neurodegenerative disorder with clinical and genetic heterogeneity， and calcification of bilateral basal ganglia is the main clinical feature of this disease. PFBC has a wide range of age of onset and complex and diverse clinical manifestations. To date， at least seven pathogenic genes have been identified， i.e.， SLC20A2 gene， PDGFRB gene， PDGFB gene， XPR1 gene， MYORG gene， JAM2 gene， and CMPK2 gene， but the specific pathogenesis of this disease remains unclear. This article reviews the recent research advances in the molecular genetics of this disease， in order to provide a reference for the diagnosis and differential diagnosis of PFBC.