Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC.
- medical genetics
- neurodegenerative diseases
FingerprintDive into the research topics of 'Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export'. Together they form a unique fingerprint.
- School of Medicine, Medical Sciences & Nutrition, Centre for Health Data Science
- School of Medicine, Medical Sciences & Nutrition, Data Safe Haven
- School of Medicine, Medical Sciences & Nutrition, Applied Medicine - Personal Chair (Clinical)
- Institute of Medical Sciences
Person: Academic, Clinical Academic