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Genetic and Rare Diseases Information Center (GARD)

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Familial idiopathic basal ganglia calcification


Other Names for this Disease
  • Bilateral striopallidodentate calcinosis
  • BSPDC
  • Cerebral calcification nonarteriosclerotic idiopathic adult-onset
  • Fahr disease, familial (formerly)
  • Ferrocalcinosis, cerebrovascular
More Names
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Overview


Familial idiopathic basal ganglia calcification (FIBGC) 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. Seizures of various types frequently occur. Symptoms typically start in an individual's 20's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time.[1] Mutations in the SLC20A2 and PDGFRB genes have been found to cause FIBGC, and this condition is inherited in an autosomal dominant manner.[2]
Last updated: 10/18/2013

References

  1. Sobrido MJ, Coppola G, Oliveira J, Hopfer S, Geschwind DH. Familial Idiopathic Basal Ganglia Calcification. GeneReviews. June 27, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1421/. Accessed 10/18/2013.
  2. Familial idiopathic basal ganglia calcification. Genetics Home Reference (GHR). February 2013; http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification. Accessed 10/18/2013.
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  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
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