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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial idiopathic basal ganglia calcification


Other Names for this Disease

  • Bilateral striopallidodentate calcinosis
  • BSPDC
  • Cerebral calcification nonarteriosclerotic idiopathic adult-onset
  • Fahr disease, familial (formerly)
  • Ferrocalcinosis, cerebrovascular
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Tests & Diagnosis

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How is familial idiopathic basal ganglia calcification (FIBGC) diagnosed?

The diagnosis of FIBGC relies upon:
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
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).
Rarely, symptomatic individuals in families with FIBGC do not show calcification. Thus, in some instances, the diagnosis can be made in the absence of one (but not both) of the first two criteria, providing the remaining criteria are met.[1]
Last updated: 8/2/2013

Is there genetic testing for familial idiopathic basal ganglia calcification even though the causative gene(s) are unknown?

Clinical genetic testing is available for the SLC20A2 gene, although a mutation is detected in only about 40% of cases of FIBGC.[1] If a mutation is not found, linkage analysis may be available on a research basis in families with at least two affected family members of different generation. This type of testing has shown linkage to chromosome 14q in one family. A genetics professional can assist in determining whether linkage analysis is appropriate for a family.[1]
Last updated: 8/2/2013

References
  1. Sobrido MJ, Coppola G, Oliveira J, Hopfer S, Geschwind DH. Familial Idiopathic Basal Ganglia Calcification. GeneReviews. June 27, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1421/. Accessed 10/18/2013.
  2. Sobrido MJ, Hopfer S, Geschwind DH. GeneReviews. September 20, 2007; http://www.ncbi.nlm.nih.gov/gtr/conditions/C0393590/. Accessed 9/18/2008.


Other Names for this Disease
  • Bilateral striopallidodentate calcinosis
  • BSPDC
  • Cerebral calcification nonarteriosclerotic idiopathic adult-onset
  • Fahr disease, familial (formerly)
  • Ferrocalcinosis, cerebrovascular
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.