White matter involvement in a family with a novel PDGFB mutation.

ABSTRACT: Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5).

SUBMITTER: Biancheri R 

PROVIDER: S-EPMC4867655 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature