Navigation Links
Abnormal Brain Circuits May Prevent Movement Disorder
Date:8/4/2009

Most people who carry a genetic mutation for a movement disorder called dystonia will never develop symptoms, a phenomenon that has puzzled scientists since the first genetic mutation was identified in the 1990s. Now, scientists at The Feinstein Institute for Medical Research have figured out why these mutation carriers are protected from symptoms of the disorder - they have an additional lesion that evens the score.

Manhasset, NY (PRWEB) August 4, 2009 -- Most people who carry a genetic mutation for a movement disorder called dystonia will never develop symptoms, a phenomenon that has puzzled scientists since the first genetic mutation was identified in the 1990s. Now, scientists at The Feinstein Institute for Medical Research have figured out why these mutation carriers are protected from symptoms of the disorder - they have an additional lesion that evens the score.

Dystonia is marked by uncontrolled movements, particularly twisting and abnormal postures. Studies have shown that muscles contract abnormally and patients can't stop the involuntary movements. The identification of a specific abnormality in people with the genetic mutation who never develop symptoms could eventually pave the way towards new treatments for dystonia patients. There are half a million people in the United States alone. The brains of people with inherited dystonia are normal at autopsy and the exact cause of their movement abnormality is unknown.

David Eidelberg, MD, the senior author of the study published in the Journal of Neuroscience, said that they used diffusion tensor imaging - a type of magnetic resonance imaging (MRI) that measures changes in the integrity of white matter pathways in the brain - to study those with and without symptoms who carry the disease gene. There were 20 people in the study; 12 with symptoms and eight without. They also had a number of volunteers who agreed to brain scans who had no disease and no mutations in the gene for dystonia.

Dr. Eidelberg and his colleagues identified two discrete areas along the pathway that links the cerebellum to the motor cortex that together determine whether a mutation carrier will display clinical manifestations of the disease.

Their earlier work revealed that patients and non-patients with the disease gene have the same underlying functional brain abnormality, such as overactivity of motor circuits that make it hard to process sequential information. Nonetheless, mutation carriers have a characteristic circuit disorder involving a motor system that is revved up and idling at high speed, making it difficult to integrate the information needed to plan movements and to learn new motor skills. It was not suspected that these otherwise healthy individuals had such difficulties since doctors only saw those who presented with the uncontrollable movements.

While their brains show the same abnormal network, only approximately 30% of people who carry the mutated gene called DYT1 will develop the involuntary movements that can prevent them from living a normal life, according to Dr. Eidelberg.

The puzzle was why.

In the latest study, the new advances in diffusion imaging allowed them to see something for the first time. They saw 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. "There is something about this second lesion that is protective," the authors concluded. "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 pathway connecting directly to the motor cortex." This second area of pathway disruption abrogated the effects of the first lesion.

Normally, the cerebellum (a region that controls movement) puts the breaks on the motor cortex by potentiating inhibition at the cortical level. It is likely that mutation carriers have a developmental problem in the flow of neural signals along this circuit such that the brain can't inhibit an unwanted movement. With the second pathway lesion, Dr. Eidelberg explained, "the flow is shut off and the abnormal activity stops."

The research was supported by the National Institutes of Health, the Bachmann-Strauss Dystonia and Parkinson Foundation, and the General Clinical Research Center, located at the Feinstein Institute.

About The Feinstein Institute for Medical Research
Headquartered in Manhasset, NY, The Feinstein Institute for Medical Research is home to international scientific leaders in Parkinson's disease, Alzheimer's disease, psychiatric disorders, rheumatoid arthritis, lupus, sepsis, inflammatory bowel disease, diabetes, human genetics, leukemia, lymphoma, neuroimmunology, and medicinal chemistry. The Feinstein Institute, part of the North Shore-LIJ Health System, ranks in the top 6th percentile of all National Institutes of Health grants awarded to research centers. Feinstein researchers are developing new drugs and drug targets, and producing results where science meets the patient. For more information, please visit www.FeinsteinInstitute.org

Contact:
Jamie Talan
science writer-in-residence
516-562-1232 (w) or
631-682-8781 (c)

# # #

Read the full story at http://www.prweb.com/releases/dystonia/medical_research/prweb2718084.htm.


'/>"/>
Source: PRWeb
Copyright©2009 Vocus, Inc.
All rights reserved

Related medicine news :

1. Chromosome Abnormality Tied to Autistic Behavior in Mice
2. Patients Often Not Told About Abnormal Test Results
3. Women with previous abnormal cervical cells at higher risk for recurrence and invasive cancer
4. Injured Marines at Risk for Abnormal Bone Growth
5. Injured Marines at risk for abnormal bone growth
6. Abnormal Heartbeat After Bypass a Bad Sign
7. New MR sequence helps radiologists more accurately evaluate abnormalities of the uterus and ovaries
8. Abnormal EKG can predict death in stroke patients
9. Brain abnormality found in boys with attention deficit hyperactivity disorder
10. Abnormal Heart Rhythm Boosts Death Risk for Diabetics
11. Risk Score May Predict Abnormal Heart Rhythm
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/13/2017)... (PRWEB) , ... October 13, 2017 , ... PurhealthRX ... CBD Oil utilizing Purzorb™ technology. Applying the Purzorb™process to full spectrum CBD oil will ... and providing a CBD form that can be easily incorporated into liquid products, while ...
(Date:10/13/2017)... ... , ... Apple Rehab Shelton Lakes , which specializes in the delivery ... as part of a disaster drill on October 3rd. , Apple Rehab participated with ... Manager, as well as the Connecticut Long Term Care Mutual Aid Plan (LTC-MAP). ...
(Date:10/13/2017)... ... October 13, 2017 , ... Ellevate Network, the leading ... to advocate for action towards gender equality at their inaugural Summit in New York ... globe, and reached a social audience of over 3 million. To watch the Mobilize ...
(Date:10/13/2017)... ... October 13, 2017 , ... Talented host, actor Rob Lowe, ... in a new episode of "Success Files," which is an award-winning educational program ... investigates each subject in-depth with passion and integrity. , Sciatica occurs when the ...
(Date:10/13/2017)... ... ... On The Brink”: the Christian history of the United States and the loss of ... William Nowers. Captain Nowers and his wife, Millie, have six children, ten grandchildren, ... Navy. Following his career as a naval aviator and carrier pilot, he spent ...
Breaking Medicine News(10 mins):
(Date:10/11/2017)... 2017  Caris Life Sciences ® , a leading ... of precision medicine, today announced that St. Jude Medical ... Alliance™ (POA) as its 17 th member. Through ... Crosson Cancer Institute will help develop standards of care ... profiling, making cancer treatment more precise and effective. ...
(Date:10/10/2017)... , Oct. 10, 2017   West Pharmaceutical Services, ... solutions for injectable drug administration, today shared the results ... Adapter for improving the intradermal administration of polio vaccines. ... Vaccination Summit in May 2017 by Dr. Ondrej ... Department, World Health Organization (WHO), and recently published in ...
(Date:10/4/2017)... Oct. 4, 2017  According to the Centers for Disease Control and ... October . PhysicianOne Urgent Care is helping communities across Massachusetts ... , by offering no-cost* flu shots through the end of the ... certain health insurance regulations. ... time to get a flu shot is by the end of October, ...
Breaking Medicine Technology: