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

J. R M Oliveira, E. Spiteri, M. J. Sobrido, S. Hopfer, J. Klepper, T. Voit, J. Gilbert, Zbigniew K Wszolek, D. B. Calne, A. J. Stoessl, M. Hutton, B. V. Manyam, F. Boller, M. Baquero, D. H. Geschwind

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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.

Original languageEnglish (US)
Pages (from-to)2165-2167
Number of pages3
JournalNeurology
Volume63
Issue number11
StatePublished - Dec 14 2004

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Genetic Heterogeneity
Basal Ganglia
Genetic Loci
Parkinsonian Disorders
Nervous System
Chromosomes
Brain
Idiopathic basal ganglia calcification 1

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Oliveira, J. R. M., Spiteri, E., Sobrido, M. J., Hopfer, S., Klepper, J., Voit, T., ... Geschwind, D. H. (2004). Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology, 63(11), 2165-2167.

Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). / Oliveira, J. R M; Spiteri, E.; Sobrido, M. J.; Hopfer, S.; Klepper, J.; Voit, T.; Gilbert, J.; Wszolek, Zbigniew K; Calne, D. B.; Stoessl, A. J.; Hutton, M.; Manyam, B. V.; Boller, F.; Baquero, M.; Geschwind, D. H.

In: Neurology, Vol. 63, No. 11, 14.12.2004, p. 2165-2167.

Research output: Contribution to journalArticle

Oliveira, JRM, Spiteri, E, Sobrido, MJ, Hopfer, S, Klepper, J, Voit, T, Gilbert, J, Wszolek, ZK, Calne, DB, Stoessl, AJ, Hutton, M, Manyam, BV, Boller, F, Baquero, M & Geschwind, DH 2004, 'Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)', Neurology, vol. 63, no. 11, pp. 2165-2167.
Oliveira JRM, Spiteri E, Sobrido MJ, Hopfer S, Klepper J, Voit T et al. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology. 2004 Dec 14;63(11):2165-2167.
Oliveira, J. R M ; Spiteri, E. ; Sobrido, M. J. ; Hopfer, S. ; Klepper, J. ; Voit, T. ; Gilbert, J. ; Wszolek, Zbigniew K ; Calne, D. B. ; Stoessl, A. J. ; Hutton, M. ; Manyam, B. V. ; Boller, F. ; Baquero, M. ; Geschwind, D. H. / Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). In: Neurology. 2004 ; Vol. 63, No. 11. pp. 2165-2167.
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