Primary Familial Brain Calcification
Other Names for this Disease
- Bilateral striopallidodentate calcinosis
- Cerebral calcification nonarteriosclerotic idiopathic adult-onset
- Fahr disease, familial (formerly)
- Familial idiopathic basal ganglia calcification (formerly)
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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.Primary familial brain calcification (PFBC) is a
Last updated: 9/4/2015
- 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.
- Genetics Home Reference (GHR) contains information on Primary Familial Brain Calcification. This website is maintained by the National Library of Medicine.
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