Personal Reason to Rejoice About New Study on Tourette Syndrome

While searching Google for the simplest way to describe Tourette Syndrome, I had a flash back to fifteen years ago when I received a frantic call from our

daughter at the University of Ottawa announcing that she had been diagnosed with TS. Immediately after the call, I rushed to research what was Tourette. For years we had sought answers and treatments to help our attractive, above average, intelligent daughter deal with the demons crowding her life.

My search, those many years ago, finally let us understand what our daughter had to confront every day and night. Living in a rural Nova Scotia area with hardly any professional support, we struggled through her childhood and through her teen years. Finally specialists in the Ottawa area had but an end to our questioning and had given us a diagnoses to explain our life coping with unknown symptoms. That day, I learned another new word: other comorbid conditions. The same struggles continued, only now we had names for these demons.

Wikipedia tells us: “Tourette syndrome, or simply Tourette's or TS is an inherited neuropsychiatric disorder with onset in childhood, characterized by the presence of multiple physical (motor) tics and at least one vocal (phonic) tic; these tics characteristically wax and wane. Obsessive–compulsive disorder (OCD) and attention-deficit hyperactivity disorder (ADHD) are often associated with Tourette's.

Undiagnosed comorbid conditions may result in functional impairment, and it is necessary to identify and treat these conditions to improve functioning. Complications may include depression, sleep problems, social discomfort and self-injury.” With these symptoms challenging their every day, you can see why news about a possible break in the search for treatment of TS is very exciting.

A study, led by Matthew State, M.D., published in the New England Journal of Medicine by Yale School of Medicine researchers May 5th 2010, gives hope for treatment of Tourette syndrome (TS).

The Yale researchers worked with a father and all eight of his children who had Tourette syndrome. The State lab took DNA samples of all members of this family and were able to identify a rare mutation in a gene called 1-histidine de carboxylase (HDC) in the samples from the TS members. This gene makes a protein that is required for the production of histamine. Histamine has a role in allergic response and is also a neurotransmitter that influences a variety of brain functions. They found that the mutated protein lost its function.

Strong evidence, that genetic mutations contribute to TS, had lead researchers in this direction for over a decade. Dr. State said that past work on brain histamine by other labs shows that mice with low levels of histamine are more prone to repetitive behaviors that are similar to human tics, and that increasing brain histamine reverses this problem.

"We were lucky to happen across a gene pointing to a well-studied area in neuroscience, pointed out State. There are several new medications in development that increase the release of brain histamine. Based on this genetic finding, these compounds would be good candidates for new treatments for Tourette."

As you can see, Tourette, like many other medical conditons, has many facets and grey areas for which the medical community has no answers. Let us hope the above gene mutation study results in real, long awaited answers …it was in 1884 that Gilles de la Tourette, using the name "maladie des tics", first described the symptoms and in his honor the illness was given his name.

Looking for more posts on Tourette? Check out:

Nix Your Tics! Eliminate Unwanted Tic Symptoms by Duncan McKinlay

Tourette Syndrome ~ Your Child, His Tics and School


Has your family been affected by Tourette Syndrome?