Little is known about their mechanisms, which are thought to be related to phosphate homeostasis via mutations in SLC20A2 and XPR1, and pericyte function affecting the blood–brain barrier integrity by mutations in PDGFRB and PDGFB. Our study demonstrated that SLC20A2 accounted for the highest contribution (14.2%) in Chinese PFBC, followed by PDGFRB, PDGFB, and XPR1 (0.9% each) (Guo et al., 2019). The gene discussed is XPR1; the disease is bilateral striopallidodentate calcinosis.