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Research unveils new hope for deadly childhood disease
Date:12/12/2007

Investigators at the University of Rochester Medical Center have uncovered a promising drug therapy that offers a ray of hope for children with Batten disease a rare neurodegenerative disease that strikes seemingly healthy kids, progressively robs them of their abilities to see, reason and move, and ultimately kills them in their young twenties.

The study, highlighted in the January edition of Experimental Neurology, explains how investigators improved the motor skills of feeble mice that model the disease, helping them to better their scores on successive coordination tests.

No treatment currently exists for these kids nothing to halt the disease, or even to slow it down, said one of the studys authors, David Pearce, Ph.D., a nationally renowned Batten disease expert and biochemist at the University of Rochester. His team has published more than 50 studies on the diseases basic mechanisms.

Since deterioration of motor skills is the rule in fact, its one of the primary symptoms in children with the disease the idea that these functions might be able to be partially restored or improved is groundbreaking, Pearce said.

Last year, University of Rochester researchers discovered that, in mice with the disease, a set of the brains receptor cells known as the AMPA receptors were unusually sensitive to glutamate, a neurotransmitter vital for learning and memory. These super-ticklish receptors were located in the cerebellum, a brain region that plays a hefty role in sensory perception and motor control.

For us, their abnormal activity made them key suspects in the brain dysfunction and neurological decline associated with the disease, Pearce said.

To test that, researchers administered a drug that partially blocks these receptors and dims their activity.

Impressively, when diseased mice that received the drug, they for the first time became able to better their scores on successive coordination test
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Contact: Becky Jones
rebecca_jones@urmc.rochester.edu
585-275-8490
University of Rochester Medical Center
Source:Eurekalert

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