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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

The father of my children has been diagnosed with Fahr's disease.  I am concerned for him and my children.  I would like to learn more about this condition and how we might be able to help him.

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

What causes primary familial brain calcification (PFBC)?

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.[1][2]
Last updated: 9/4/2015

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

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 5/24/2016

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

What is the prognosis for primary familial brain calcification (PFBC)?

The prognosis for any individual with PFBC is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit.[3]
Last updated: 9/4/2015

Are there advocacy organizations and supportive resources available for individuals and families with primary familial brain calcification (PFBC)?

Please click here to go to the "Organizations" tab to view the names of advocacy groups and supportive resources available for PFBC.
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.