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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.

Your Question

How can I obtain information about treatment options for familial idiopathic basal ganglia calcification (FIBGC)? Is there any research being done to find a treatment or cure for this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is primary familial brain calcification (PFBC)?

Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2PDGFRB, and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner.[1][2]
Last updated: 9/4/2015

How might primary familial brain calcification (PFBC) be treated?

There is no standard course of treatment for PFBC. Treatment typically addresses symptoms on an individual basis. Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystoniaAntiepileptic drugs (AEDs) can be prescribed for seizures. Oxybutynin may be prescribed for urinary incontinence (loss of bladder control). Surveillance typically includes yearly neurologic and neuropsychiatric assessments.[1]
Last updated: 9/4/2015

Is there any research being done to find a treatment or cure for primary familial brain calcification (PFBC)?

The National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. While no studies specific to treatment for PFBC are listed at this time, there is a study enrolling patients with various inherited neurological disorders. To find more information about this trial, click here.
Last updated: 9/4/2015

References
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.