Primary Familial Brain Calcification
Other Names for this Disease
- Bilateral striopallidodentate calcinosis
- Cerebral calcification nonarteriosclerotic idiopathic adult-onset
- Fahr disease, familial (formerly)
- Familial idiopathic basal ganglia calcification (formerly)
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PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found.
Last updated: 9/4/2015
- Sobrido MJ, Coppola G, Oliveira J, Hopfer S, Geschwind DH. Primary Familial Brain Calcification. GeneReviews. October 16, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1421/. Accessed 9/4/2015.
- Familial idiopathic basal ganglia calcification. Genetics Home Reference (GHR). February 2013; http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification. Accessed 9/4/2015.