National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Primary Familial Brain Calcification


Other Names:
FIBGC (formerly); Idiopathic basal ganglia calcification 1; Fahr's Syndrome (formerly); FIBGC (formerly); Idiopathic basal ganglia calcification 1; Fahr's Syndrome (formerly); Bilateral striopallidodentate calcinosis; BSPDC; Cerebral calcification nonarteriosclerotic idiopathic adult-onset; Striopallidodentate calcinosis autosomal dominant adult-onset; Ferrocalcinosis, cerebrovascular; Fahr disease, familial (formerly); Primary familial brain calcification; Familial idiopathic basal ganglia calcification (formerly) See More
Categories:
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 SLC20A2, PDGFRB, 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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of neuronal migration 0002269
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Hepatomegaly
Enlarged liver
0002240
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Seizure 0001250
Subcutaneous hemorrhage
Bleeding below the skin
0001933
Thrombocytopenia
Low platelet count
0001873
Ventriculomegaly 0002119
30%-79% of people have these symptoms
Corneal opacity 0007957
5%-29% of people have these symptoms
Abnormal pyramidal sign 0007256
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Athetosis
Involuntary writhing movements in fingers, hands, toes, and feet
0002305
Autosomal dominant inheritance 0000006
Basal ganglia calcification 0002135
Bradykinesia
Slow movements
Slowness of movements
[ more ] 		0002067
Calcification of the small brain vessels 0002504
Chorea 0002072
Dense calcifications in the cerebellar dentate nucleus 0002461
Depressivity
Depression
0000716
Dysarthria
Difficulty articulating speech
0001260
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Dystonia 0001332
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hyperreflexia
Increased reflexes
0001347
Limb dysmetria 0002406
Mask-like facies
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] 		0000298
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] 		0002354
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] 		0001268
Micrographia 0031908
Parkinsonism 0001300
Postural instability
Balance impairment
0002172
Progressive
Worsens with time
0003676
Psychosis 0000709
Rigidity
Muscle rigidity
0002063
Tremor 0001337
Urinary incontinence
Loss of bladder control
0000020
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Last updated: 7/1/2020
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
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

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 as 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

Testing Resources

  • 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.
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 dystonia. Antiepileptic 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
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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include hypoparathyroidism and pseudohypoparathyroidism, which can usually be excluded by normal serum levels of parathyroid hormone, Kenny-Caffey syndrome type 1, neurodegeneration with iron accumulation, Cockayne syndrome and Aicardi-Goutières syndrome (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Primary Familial Brain Calcification. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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/.
  2. Familial idiopathic basal ganglia calcification. Genetics Home Reference (GHR). February 2013; http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification.
  3. NINDS Fahr's Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 13, 2007; http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm. Accessed 9/4/2015.