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Genetic clues to compulsive, self-injurious behavior in rare childhood disorder
Date:1/28/2011

Research from the University of California, San Diego School of Medicine provides new clues for the compulsive behavior and cognitive defects associated with a rare childhood neurological disease called Lesch-Nyhan Disease (LND). Two pathways found to be defective in LND are known to be associated with other neurodegenerative disease, such as Alzheimer's and Parknson's diseases, suggesting common causes of cognitive and behavioral defects in these neurological disorders.

The research is published on-line today in the PLoS ONE.

"This study is important because it opens completely new and unexpected areas of research into the genetic cause of compulsive and self-injurious behavior in Lesch-Nyhan disease," said principal investigator Theodore Friedmann, MD, professor of pediatrics at UCSD's Center for Neural Circuit and Behavior and Rady Children's Hospital-San Diego, a research and teaching affiliate of the UCSD School of Medicine.

"We think that the findings also have implications for far more common diseases related to the central nervous system, such as Alzheimer's and Parkinson's diseases, since defects similar or related to those that we've found are also seen in other neurodegenerative diseases suggesting common mechanisms for some of the cognitive, behavioral and neurological defects in all these disorders," Friedmann added.

LND is an inherited disease caused by a deficiency of the HGPRT enzyme, produced by mutations in the HPRT gene located on the X chromosome, which causes a build-up of uric acid in all bodily fluids. The rare disorder, first identified by medical student Michael Lesch and his mentor, William L. Nyhan currently a research professor of pediatrics at UC San Diego School of Medicine is almost always seen in males. Complications usually appear in the first year of life, with neurological signs including poor muscle control and moderate cognitive deficiencies. A particularly disturbing aspec
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Contact: Debra Kain
ddkain@ucsd.edu
619-543-6163
University of California - San Diego
Source:Eurekalert  

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