Primary Familial Brain Calcification
- Bilateral striopallidodentate calcinosis
- Cerebral calcification nonarteriosclerotic idiopathic adult-onset
- Fahr disease, familial (formerly)
- Familial idiopathic basal ganglia calcification (formerly)
Your QuestionThe 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.
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Questions on this page
- What is primary familial brain calcification (PFBC)?
- What causes primary familial brain calcification (PFBC)?
- How is primary familial brain calcification (PFBC) diagnosed?
- Is there genetic testing for primary familial brain calcification (PFBC) even though not all of the causitive genes are known?
- How can I find a genetics professional in my area?
- How might primary familial brain calcification (PFBC) be treated?
- What is the prognosis for primary familial brain calcification (PFBC)?
- Are there advocacy organizations and supportive resources available for individuals and families with primary familial brain calcification (PFBC)?
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.
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.
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:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- 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/. Accessed 9/4/2015.
- Familial idiopathic basal ganglia calcification. Genetics Home Reference (GHR). February 2013; http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification. Accessed 9/4/2015.
- 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.