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NEUROLOGY 2004;63:2165-2167
© 2004 American Academy of Neurology
Brief Communications

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

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

From the Neurogenetics Program (Drs. Oliveira, Spiteri, Sobrido, and Geschwind, and S. Hopfer), Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA; Department of Pediatric Neurology (Drs. Klepper and Voit), University of Essen, Children’s Hospital, Germany; Department of Neurology (Dr. Gilbert), Brockton Hospital, MA; Departments of Neurology (Dr. Wszolek) and Neuroscience (Dr. Hutton), Mayo Clinic, Jacksonville, FL; Department of Neurology (Drs. Calne and Stoessl), University of British Columbia, Vancouver, Canada; Department of Neurology (Dr. Manyam), Scott and White Clinic, Memorial Hospital and Texas A and M University Health Science Center System College of Medicine, Temple; INSERM U324 (Dr. Boller), Centre Paul Broca, Paris, France; and Department of Neurology (Dr. Baquero), University Hospital La Fe, Valencia, Spain.

Address correspondence and reprint requests to Dr. Daniel Geschwind, UCLA Department of Neurology, 710 Westwood Plaza, Los Angeles, CA 90095-1769; e-mail: dhg{at}ucla.edu

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.

Received January 26, 2004. Accepted in final form July 21, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 14 issue to find the title link for this article.

*These authors contributed equally.




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