CLINICAL HETEROGENEITY OF PRIMARY FAMILIAL BRAIN CALCIFICATION DUE TO A NOVEL MUTATION IN PDGFB

Primary familial basal ganglia calcification (PFBC) (previously known as idiopathic basal ganglia calcification or Fahr disease) is an autosomal dominant neurodegenerative disorder characterized by bilateral cerebral calcification primarily affecting the basal ganglia. Recently, mutations in SLC20A2,(1)PDGFRB,(2) and PDGFB(3,4) have been identified as causing PFBC. However, other than the original study,(3) there has been a paucity of descriptions of families with PFBC.(5