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Feinstein scientists identify abnormal disease pathway in dystonia
Date:4/12/2011

MANHASSET, NY -- Scientists tried creating a laboratory model of idiopathic torsion dystonia, a neurological condition marked by uncontrolled movements, particularly twisting and abnormal postures. But the genetic defect that causes dystonia in humans didn't seem to work in the laboratory models that showed no symptoms whatsoever.

Now, a team of scientists at The Feinstein Institute for Medical Research have figured out why and the finding could lead to ways to test novel treatments. Aziz M. Ulug, PhD, and his colleagues at the Feinstein's Center for Neurosciences wanted to understand why some people with a gene that causes dystonia never get symptoms and others with the same mutation are disabled by the abnormal movements. Since the first dystonia gene was identified in the 1990s, scientists have observed that most people who carry this mutation never develop symptoms.

Last year, a team led by David Eidelberg, MD, head of the Feinstein Institute's Center for Neuroscience, figured out why the majority of these mutation carriers are protected from symptoms they have an additional lesion that evens the score. In an article published in the Journal of Neuroscience, the team described two separate areas along the brain pathway that links the cerebellum to the motor cortex. The integrity of the pathway in these two regions together determines whether a mutation carrier will display clinical manifestations of the disease.

New advances in diffusion imaging in humans led to the discovery that there were two places along the motor pathway that seemed to stop the flow of neural signals from one part of the circuit to the other. Those with only one lesion in the circuit developed the debilitating movements and those with two lesions did not. "We found a consistent cerebellar pathway problem in all DYT1 carriers. When we went back and looked at those without symptoms, we saw that they had an additional lesion downstream in the portion of the pa
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Contact: Jamie Talan
jtalan@nshs.edu
516-562-1232
North Shore-Long Island Jewish (LIJ) Health System
Source:Eurekalert

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