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:6/26/2016)... Carolina (PRWEB) , ... June 26, 2016 , ... ... of a new product that was developed to enhance the health of felines. The ... centuries. , The two main herbs in the PawPaws Cat Kidney Support ...
(Date:6/26/2016)... ... June 26, 2016 , ... Many women are ... with endometriosis. These women need a treatment plan to not only alleviate symptoms ... can help for preservation of fertility and ultimately achieving a pregnancy. The specialists ...
(Date:6/25/2016)... ... June 25, 2016 , ... Austin residents seeking Mohs ... College of Mohs Surgery and to Dr. Russell Peckham for medical and surgical dermatology. ... treatment for skin cancer. The selective fellowship in Mohs Micrographic Surgery completed by Dr. ...
(Date:6/25/2016)... ... June 25, 2016 , ... "With 30 hand-drawn hand gesture ... said Christina Austin - CEO of Pixel Film Studios. , ProHand Cartoon’s package ... Final Cut Pro X . Simply select a ProHand generator and drag it ...
(Date:6/25/2016)... ... June 25, 2016 , ... As a lifelong Southern Californian, Dr. Omkar ... M.D from the David Geffen School of Medicine at UCLA. He trained in Internal ... complete his fellowship in hematology/oncology at the UCLA-Olive View-Cedars Sinai program where he had ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... 27, 2016  VMS Rehab Systems, Inc. ( www.vmsrehabsystemsinc.com ... whatever measures required to build a strong and stable ... currently listed on the OTC Markets-pink current trading platform. ... CEO, "We are seeing an anomaly in market trading ... only by the Company, but shareholders and market players ...
(Date:6/24/2016)... , June 24, 2016   Bay ... Rehabilitation Network,s Dean Center for Tick Borne ... Medicine and Rehabilitation, MIT Hacking Medicine, University of ... Innovation, today announced the five finalists of ... Lyme disease.  More than 100 scientists, clinicians, researchers, ...
(Date:6/24/2016)... SAN CLEMENTE, Calif. , June 24, 2016  American Respiratory ... testing company, is now able to perform sophisticated lung assessments in ... Medical Technologies , Inc. Patients are no longer ... to ndd,s EasyOne PRO ® , ARL patients like Jeanne R. ... testing done in the comfort of her own home. ...
Breaking Medicine Technology: