The pathophysiology and therapeutic drug development of idiopathic basal ganglia calcification

Abstract

Idiopathic basal ganglia calcification (IBGC), which is also called Fahr's disease or recently referred to as primary familial brain calcification (PFBC), is an idiopathic and intractable disease that is characterized by abnormal deposits of minerals including calcium in the basal ganglia and other brain regions such as the thalamus and cerebellum. Variants in SLC20A2, PDGFRB, PDGFB, XPR1 and MYORG have been reported in the past several years. The pathophysiological basis presumed by the genetic studies is the impairment of transport of inorganic phosphate (Pi) inside and outside the cells in the brain. The flow between cerebrospinal fluid and interstitial fluid in the brain and the drainage flow through the perivascular space in the concept of perivascular drainage system can well explain the distribution and pathology of mineralization in IBGC. Here we discuss the pathophysiology of IBGC and present our therapeutic strategies for IBGC.