Deep Brain Stimulation Helps Triathlete Get Back in the Race

A brain surgery while I’m awake? That sounds like a science fiction novel to most of us. However, it’s now a reality with DBS.

What is Deep Brain Stimulation?

Deep Brain Stimulation, or DBS, is a brain surgery designed to help improve the symptoms of Parkinson’s Disease, Dystonia, Essential Tremor, and other neurological conditions by using a pacemaker for the brain. With our focused multidisciplinary team and testing procedures, we are able to determine which patients will benefit most. Once a patient is deemed to be an optimal candidate for DBS, surgery is scheduled. Depending on the patient’s diagnosis and treatment plan, 2 or 3 surgeries will be required. Read more

Dystonia Researchers Discover New Gene

A team of researchers at The Mount Sinai Medical Center and elsewhere recently discovered a causative gene for primary torsion dystonia (PTD), which sheds light on the genetic underpinnings of this debilitating movement disorder that affects an estimated 500,000 adults and children in North America. PTD is characterized by repetitive twisting muscle contractions throughout the body.

Drs. Laurie Ozelius and Tania Fuchs

The findings—which appear in the December 9, 2012, issue of Nature Genetics—identified the gene GNAL after exome sequencing was performed on two families with PTD. Further investigation into GNAL revealed six additional mutations of the gene. Exome sequencing is an effective, less expensive alternative to whole genome sequencing.

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