Impact: The isolated, thickened cortical region in language areas is remarkable because patients with Williams syndrome show marked strengths in language and related abilities. The ability to map these abnormalities in living patients demonstrates how genes control development of the human cortex, and also aids clinical prognosis and understanding of the syndrome's underlying genetic trigger.
Background: Williams Syndrome is a genetic disorder characterized by heart defects, abnormalities in the outer layer of the brain, or cerebral cortex, and mild to moderate mental retardation. In addition, people with Williams syndrome often demonstrate high proficiency in language skills, social drive and musical ability. The syndrome affects 1 in 20,000 individuals.
Author: The lead author is Paul Thompson, associate professor in residence of neurology at the David Geffen School of Medicine at UCLA.
Funder: National Institute for Biomedical Imaging and Bioengineering, the National Center for Research Resources, the National Institute of Mental Health, and the National Institute of Child Health and Human Development
Journal: The April 20, 2005, edition of Journal of Neuroscience.
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