Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Primary Familial Brain Calcification


Other Names for this Disease
  • FIBGC (formerly)
  • Idiopathic basal ganglia calcification 1
  • Fahr's Syndrome (formerly)
  • Bilateral striopallidodentate calcinosis
  • BSPDC
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

How is primary familial brain calcification (PFBC) diagnosed?

The diagnosis of PFBC relies upon:[1]
 
1) visualization of bilateral (on both sides) calcification of the basal ganglia on neuroimaging, 
2) presence of progressive neurological dysfunction, 
3) absence of a metabolic, infectious, toxic, or traumatic cause, and
4) a family history consistent with autosomal dominant inheritance (a person must inherit one copy of the altered gene from one parent to have the condition).

Molecular genetic testing can help confirm the diagnosis.[1]
Last updated: 9/4/2015

Is there genetic testing for primary familial brain calcification (PFBC) even though not all of the causitive genes are known?

Genetic testing may help to confirm the diagnosis. For individuals in who a diagnosis of PFBC is being considered, other causes of brain calcification should be eliminated prior to pursuing genetic testing, particularly in simplex cases. Testing that might be done includes biochemical analysis of blood and urine, as well s analysis of cerebrospinal fluid. If no other primary cause for brain calcification is detected or if the family history is suggestive of autosomal dominant inheritance, molecular genetic testing should be considered.[1] 

Sequencing of SLC20A2 should be pursued first. If no mutation is identified, deletion/duplication analysis of SLC20A2 may be considered. If no identifiable mutation or deletion in SLC20A2 is found, sequence analysis of PDGFRB and PDGFB may be considered.[1]
Last updated: 9/4/2015

References
  1. 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/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • FIBGC (formerly)
  • Idiopathic basal ganglia calcification 1
  • Fahr's Syndrome (formerly)
  • Bilateral striopallidodentate calcinosis
  • BSPDC
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.