NEUROBIOLOGY
The brain is at the heart of a chromosomal deletion disorder
Williams Syndrome (WS) is a disease caused by a chromosomal deletion and is characterized by several neural and behavioral abnormalities. There have been indications that the hippocampus in the brain is involved in WS but no human data were available. This was largely because most individuals with WS have severe mental retardation, precluding use of demanding tasks and comparison to matched normal controls.
In a study appearing online on June 9 in advance of the print publication of the July 1 print issue of the Journal of Clinical Investigation, Andreas Meyer-Lindenberg and colleagues from the NIMH addressed this problem by studying a unique group of internationally recruited, high-functioning participants with WS. The scientists show clear metabolic, functional and structural impairment of the hippocampal formation and other subtle structural changes in WS patients using a combination of four neuroimaging techniques. These results clarify a biological mechanism for WS and advance our understanding of the genetic and physiological basis of this disease.
Title: Functional, structural and metabolic abnormalities of the hippocampal formation in Williams syndrome
AUTHOR CONTACT:
Andreas Meyer-Lindenberg
National Institute for Mental Health, Bethesda, MD USA
Phone: 301-517-5760; Fax: 301-496-7437; E-mail: am-l@nih.gov
View the PDF of this article at: https://www.the-jci.org/article.php?id=24892
PHYSIOLOGY
A new role for NO in blood vessel maturation
Angiogenesis, the formation of new blood vessels from existing ones, is involved in many physiological and pathological processes. However, despite a growing list of molecules that regulate vessel growth, basic mechanistic insight into vessel
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Contact: Stacie Bloom
press_releases@the-jci.org
212-342-4159
Journal of Clinical Investigation
9-Jun-2005