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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
Gene Review

IBGC1  -  idiopathic basal ganglia calcification 1

Homo sapiens

Synonyms: BGCI, IBGC
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Disease relevance of IBGC1


Psychiatry related information on IBGC1


High impact information on IBGC1

  • We have identified a multigenerational family with dominantly inherited IBGC and, in 24 members of this family, performed a whole-genome scan using polymorphic microsatellite markers to identify the first chromosomal locus for this disorder (IBGC1) [1].
  • Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease) [1].
  • Idiopathic basal ganglia calcification is a syndrome consisting of bilateral basal ganglia calcifications, neuropsychiatric abnormalities, disturbances of movement, and normal calcium and phosphorus metabolism [5].
  • We identified two novel SNPs in the intron-exon boundaries; however, they did not segregate only with affected subjects in the predicted model of an autosomal dominant disease such as IBGC [7].
  • The associations between these abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptibility locus for IBGC ( IBGC1) [2].

Biological context of IBGC1


  1. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Geschwind, D.H., Loginov, M., Stern, J.M. Am. J. Hum. Genet. (1999) [Pubmed]
  2. Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. Brodaty, H., Mitchell, P., Luscombe, G., Kwok, J.J., Badenhop, R.F., McKenzie, R., Schofield, P.R. Hum. Genet. (2002) [Pubmed]
  3. Subcortical dementia. Review of an emerging concept. Cummings, J.L., Benson, D.F. Arch. Neurol. (1984) [Pubmed]
  4. Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea, and dystonia. Klein, C., Vieregge, P., Kömpf, D. Mov. Disord. (1997) [Pubmed]
  5. Idiopathic basal ganglia calcification and organic mood disorder. Trautner, R.J., Cummings, J.L., Read, S.L., Benson, D.F. The American journal of psychiatry. (1988) [Pubmed]
  6. Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability. Pickard, B.S., Malloy, M.P., Porteous, D.J., Blackwood, D.H., Muir, W.J. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2005) [Pubmed]
  7. Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue. Schwarzbraun, T., Vincent, J.B., Schumacher, A., Geschwind, D.H., Oliveira, J., Windpassinger, C., Ofner, L., Ledinegg, M.K., Kroisel, P.M., Wagner, K., Petek, E. Genomics (2004) [Pubmed]
  8. Autosomal dominant dystonia-plus with cerebral calcifications. Wszolek, Z.K., Baba, Y., Mackenzie, I.R., Uitti, R.J., Strongosky, A.J., Broderick, D.F., Baker, M.C., Melquist, S., Hutton, M.L., Tsuboi, Y., Allanson, J.E., Carr, J., Kumar, A., Calne, S.M., Miklossy, J., McGeer, P.L., Calne, D.B., Stoessl, A.J. Neurology (2006) [Pubmed]
  9. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Oliveira, J.R., Spiteri, E., Sobrido, M.J., Hopfer, S., Klepper, J., Voit, T., Gilbert, J., Wszolek, Z.K., Calne, D.B., Stoessl, A.J., Hutton, M., Manyam, B.V., Boller, F., Baquero, M., Geschwind, D.H. Neurology (2004) [Pubmed]
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