title: Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).
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.
authors.affiliation: Neurogenetics Program, Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-1769, USA.
authors.forename: J R M
authors.initials: JR
authors.lastname: Oliveira
authors.forename: E
authors.initials: E
authors.lastname: Spiteri
authors.forename: M J
authors.initials: MJ
authors.lastname: Sobrido
authors.forename: S
authors.initials: S
authors.lastname: Hopfer
authors.forename: J
authors.initials: J
authors.lastname: Klepper
authors.forename: T
authors.initials: T
authors.lastname: Voit
authors.forename: J
authors.initials: J
authors.lastname: Gilbert
authors.forename: Z K
authors.initials: ZK
authors.lastname: Wszolek
authors.forename: D B
authors.initials: DB
authors.lastname: Calne
authors.forename: A J
authors.initials: AJ
authors.lastname: Stoessl
authors.forename: M
authors.initials: M
authors.lastname: Hutton
authors.forename: B V
authors.initials: BV
authors.lastname: Manyam
authors.forename: F
authors.initials: F
authors.lastname: Boller
authors.forename: M
authors.initials: M
authors.lastname: Baquero
authors.forename: D H
authors.initials: DH
authors.lastname: Geschwind
mesh_terms: D001480:Basal Ganglia Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006801:Humans; D008126:Lod Score; D008297:Male; D009460:Neurologic Examination; D010375:Pedigree