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, Z. K. Wszolek, D. B. Calne, A. J. Stoessl, M. Hutton, B. V. Manyam, F. Boller, M. Baquero, D. H. Geschwind

Research output: Contribution to journalArticle

89 Scopus citations

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
DOIs
StatePublished - Dec 14 2004

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)'. Together they form a unique fingerprint.

  • Cite this

    Oliveira, J. R. M., 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. (2004). Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology, 63(11), 2165-2167. https://doi.org/10.1212/01.WNL.0000145601.88274.88