Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

Neurology. 2004 Dec 14;63(11):2165-7. doi: 10.1212/01.wnl.0000145601.88274.88.

Abstract

Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Basal Ganglia Diseases / genetics*
  • Calcinosis / genetics*
  • Chromosomes, Human, Pair 14 / genetics
  • Female
  • Genes, Dominant
  • Genetic Heterogeneity*
  • Humans
  • Lod Score
  • Male
  • Neurologic Examination
  • Pedigree