Health-Medical-Fitness-Diet-zk: Tremor

duminică, 5 august 2012

Improved Diagnosis For Essential Tremor

Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine movement. The researchers published their findings tomorrow in The American Journal of Human Genetics.

Exactly why this shaking occurs has remained unknown, despite the work of many clinicians and researchers for decades. While it is known that there is a problem with the parts of the brain that control certain muscles, it has been a challenging endeavor to identify what exactly is malfunctioning in the nervous system of affected individuals. Despite strong evidence that the disease has a genetic basis and years of research effort, no actual genetic link had been identified until today.

Scientists already knew that mutations in a gene called FUS (Fused in Sarcoma) cause amyotrophic lateral sclerosis (ALS), a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement. The ET research team was successful in identifying mutations that cause ET in this gene, and they also proved that the disease mechanisms for ET and ALS FUS mutations are different. "When I started my post-doctoral work in the Rouleau laboratory, I felt compelled to study essential tremor. I saw a great opportunity to identify the first ET gene considering the plethora of families collected for study in the laboratory, and the availability of new sequencing technologies that has revolutionized gene discovery efforts," said lead author Dr. Nancy Merner. "As a proof of principle study, we chose one family to sequence and took a simple approach to overcome particular clinical barriers that have hindered previous gene discovery attempts."

The other members of the research team share her clinical focus. "This discovery has provided the world with the first insight toward the disease mechanism of essential tremor, which is crucial for disease management, particularly for future drug developments. It also presents a logical approach that can be used for additional ET gene discoveries, which we are currently pursuing" said Dr. Guy Rouleau. "There is currently a lack of consensus on the diagnostic criteria of ET thus a genetic diagnosis can be beneficial, especially for familial cases. Transitioning to a genetic diagnosis would cut down on ET misdiagnosis," added Dr. Patrick Dion who is another key researcher on this project. Misdiagnosis occurs in 37-50% of individual cases.

To affected individuals, the tremors are generally annoying and embarrassing, and can interfere with everyday tasks such as working, writing, eating, or drinking, since tremors affecting the hands are the most common and affected individuals can have trouble holding or using small objects. "Our overall goal in this endeavor is to improve the quality of life of affected individuals," said Dr. Merner. "The road is now paved for improvement."

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our neurology / neuroscience section for the latest news on this subject. The identification of FUS was performed in the Rouleau laboratory and supported by the Chaire Jeanne-et-J.-Louis-Lévesque en Génétique des Maladies du Cerveau de l'Université de Montréal. The Canadian Institutes of Health Research has also funded the pursuit for additional ET genes.
About the study:
"Exome sequencing identifies FUS mutations as a cause of essential tremor." Authors: Nancy D. Merner, Simon L. Girard, Hélène Catoire, Cynthia V. Bourassa, Veronique V. Belzil, Jean-Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne-Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, and Guy. A Rouleau
About the researchers:
Dr. Guy Rouleau, M.D., PhD, Professor, Faculty of Medicine, Université de Montréal, Director of the CHU Ste-Justine Research Centre, Investigator at the Research Centre of the Centre hospitalier de l'Université de Montréal.
Dr. Nancy Merner, Ph.D., post-doctoral fellow, Faculty of Medicine, Université de Montréal
Dr. Patrick Dion, Ph.D., Research associate, Faculty of Medicine, Université de Montréal
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joi, 8 decembrie 2011

Likely Cause Of Essential Tremor Discovered

Main Category: Neurology / Neuroscience
Article Date: 08 Dec 2011 - 1:00 PST

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Researchers from the CHUQ research center and Universite Laval have discovered the likely cause of essential tremor (ET), a neurological disorder that affects more than 10 million North Americans. The team's promising findings were published in a recent edition of the scientific journal Brain.

Frequently confused with Parkinson's disease, ET is the most common involuntary movement disorder. An estimated 4% of the population over 40 is affected by this neurological condition which manifests as muscle tremors, normally in the face, neck, and vocal chords.

The research team noticed a decrease in the concentration of GABA receptors in the cerebellum of patients suffering from ET. GABA receptors relay "chemical messages" which transmit inhibitory information to the different parts of the brain and play an essential role in the human body. A loss of GABA receptors in the cerebellum could affect the function of the cerebellum, an organ beneath the brain that manages communication between the brain and muscles and coordinating movements.

"This is one of the first demonstrations of biochemical changes in the cerebellum in patients with ET. It's a real step forward that opens the doors to new avenues of research, and perhaps to new treatments down the road. It's possible that stimulating GABA receptors could help patients control, or even reduce, essential tremor," said Dr. Frédéric Calon, researcher at the CHUQ research center and professor at Université Laval's Faculty of Pharmacy. "This is one of the first times such large sample groups have been used to study ET," he continued.

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our neurology / neuroscience section for the latest news on this subject. In addition to Dr. Calon, study authors were Sarah Paris-Robidas, Élodie Brochu, Marion Sintes, Vincent Emond, Mélanie Bousquet, Milène Vandal, Mireille Pilote, Cyntia Tremblay, and Thérèse Di Paolo from the CHUQ research center and Université Laval's Faculty of Pharmacy, as well as Ali H. Rajput and Alex Rajput from the University of Saskatchewan.
The research was made possible by a grant from the International Essential Tremor Foundation.
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