Tourette Syndrome

Tourette Syndrome (TS) is a neurological movement disorder that is inherited. It affects between 100,000 to 200,000 people in the United States. About 1 million Americans may have very mild symptoms of TS. A person with TS makes involuntary and repeated body movements, called "tics." The tics are not always present, but may worsen with fatigue or stress.

Why is it Called Tourette Syndrome?

One of the first written descriptions of TS was made in 1825 by French neurologist Jean-Marc Itard, who was caring for a noblewoman who developed vocal tics at the age of 7. These tics developed into screams and curses, so she was sent to live in seclusion. Sixty years after Itard wrote his description, neuropsychiatrist Georges Albert Edouard Brutus Gilles de la Tourette (born 1857; died 1904) wrote a detailed account of several patients with tics in 1885. Included in his account was the French noblewoman Itard had studied.

Tourette Syndrome Fast Facts

• The symptoms of TS generally appear before the age of 18, with the median age of onset being 7 years of age.
• The first symptoms are usually facial tics, such as eye blinks.
• Although there are treatments, there is as yet no cure for TS and symptoms can last throughout one's life.
• The symptoms of TS generally decline in severity after puberty. In 20-30% of cases, the symptoms disappear entirely as the person with TS ages into their 20s.
• People with TS have a normal life span.
• TS does not affect a person's IQ.
• Tics decrease in frequency and intensity during sleep.
• TS is seen in all ethnic groups.
• Males are affected by TS three to four times more often than females.
• The majority of cases of TS are classified as mild, although specific symptoms and their severity vary from person to person.
• Most people with TS are able to hold jobs and lead full lives.

Motor Tics

Motor tics are involuntary movements that most often involve the face and neck muscles. Such movements include shoulder shrugging, eye blinking, and nose twitching. They can also involve the rest of the body, as in arm thrusting, leg kicking and jumping motions. Motor tics usually occur in the same part of the body, but over time, tics may fade from one part and appear in another part.

Motor tics can be classified as simple or complex. Simple tics are abrupt, brief movements that occur in a single and isolated fashion, meaning that no other tics are experienced at the same time. Examples of motor tics are an eye twitch, a shoulder shrug, or a head jerk.

Complex tics are a series of movements. These can appear purposeful, as if the person was coordinating them, but they are also involuntary. Examples of a complex tic might be smelling objects (which might include picking something up, bringing it to the nose, sniffing, then putting it down) or mimicking movements made by others (called "echopraxia"). These might be interpreted as purposeful. Examples of complex tics that would not be seen as purposeful would be repeated kicking motions, or head shaking with shoulder shrugging.

Vocal Tics

Perhaps the most well known symptom of TS is the vocal tic. Vocal tics include everything from a simple clearing of the throat, sniffing noises, grunting or barking to the verbalization of words and nonsensical sounds. Most people think of people with TS as having outbursts that include obscene words. In fact, this occurs in only about 15% of TS cases. As with motor tics, vocal tics vary in severity and frequently change (from grunts to words, for example) and may become better or worse depending on circumstances.

As with motor tics, vocal tics can be separated into simple and complex tics. Simple vocal tics include single sounds such as clearing the throat or sniffing. Complex vocal tics include any expression of words, including obscene words ("coprolalia"); repeating the words of others ("echolalia"); or repeating their own words ("palilalia"-which is difficult for anyone to say).

Diagnosis

Although there is no single test that can tell whether a person has TS, tests such as MRI (magnetic resonance imaging), CT (computed tomography), EEG (electroencephalogram) and blood tests can help rule out other diseases which may have symptoms similar to TS. If these tests are negative for other disorders and the person has had chronic, multiple motor or vocal tics for over a year, a clinical diagnosis of TS may be made.

Associated Traits

Although tics are the most obvious trait of TS, it is other aspects of the syndrome that tend to be more disabling. People with TS may also be obsessive, compulsive, inattentive, hyperactive, impulsive, learning disabled and depressed. It is unclear how these behavioral symptoms relate to TS. Are they part of the spectrum of Tourette Syndrome, or are they a coincidence?

Treating one disorder may worsen another. For example, if stimulants are prescribed for the symptoms of attention deficit disorder/attention deficit hyperactivity disorder, they may increase the frequency and severity of tics in people with TS.

Involuntary or UNvoluntary?

Because tics are a response to an urge to perform a movement, some people refer to these movements as UNvoluntary, because the person does have some control over them. People with mild TS can partially or fully suppress tics for a short period of time. When tics are suppressed, it seems that tension builds inside the person, which is eventually released by a burst of tics.

Do All People with Tics have Tourette Syndrome?

No, having tics does not necessarily mean that one has TS. Traumatic injury to the brain can also cause tics. For example, a car accident could damage the brain and leave a person with tics. Tics can also result from neurological disorders such as encephalitis and Huntington's disease. Long-term use of certain antipsychotic medication may also cause tics.

What Causes TS?

The basic cause of TS is not known, but it is probably caused in part by an abnormal gene that alters how the brain uses neurotransmitters such as dopamine, serotonin, and norepinephrine. A neurotransmitter is a chemical that transmits or carries a signal from one nerve cell to another.

It is known that TS is inherited in a dominant mode, meaning if a father has TS, he has a 50% chance of giving the TS gene to his child. If that sounds simple, it gets more complicated. Even if the child gets the TS gene, the child may have milder symptoms than the father or even no symptoms at all, even though the child has the abnormal gene.

Twin studies are important because they give valuable insight into how genetics and environment affect diseases. Although it is clear that genetics play a powerful role in TS, environmental factors influence how affected one is by TS. Identical twins, whose genes are identical, may have tics that differ in the intensity, frequency and character. This means that non-genetic factors underlie these differences.

Some other interesting information resulting from twin studies show that the twin who weighs less at birth tends to have more severe tics later in life. This may be caused by a series of events that happen before the babies are born, such as differences in oxygen and nutrient levels in the babies' developing brains. Parts of the brain called the basal ganglia have been shown to play a role in TS and in other disorders involving involuntary movements (such as Huntington's disease and Parkinson's disease).

Brain imaging techniques have shown subtle abnormalities in the basal ganglia area of the brain in some people with TS. MRI has shown that in twins with TS, the more severely affected twin had about a 7% decrease in the size of the brain's right caudate nucleus. One study using PET (positron emission tomography) showed changes in activity in the basal ganglia and prefrontal cortex, but the authors noted that the data were not consistent, meaning it is too preliminary to draw any solid conclusions from this work at this time. Additionally, the roles of neurotransmitters such as serotonin and dopamine in TS are not yet fully understood.

What about Medication?

Most people with TS do not need medication because their symptoms are mild and they can function in society with few problems. Some people, however, do benefit from medication. In general, no single medication will completely get rid of the symptoms of TS. Existing medications can also have side effects such as depression, movement problems, drowsiness, fatigue and weight gain.

Neuroleptics (for example, haloperidol) are dopamine antagonists, meaning they block receptors so dopamine cannot bind to its usual spot on the nerve cells in the brain. Thus, dopamine can not pass on its signal and assert its action on the brain. Tics may be caused by dopamine receptors that are overly sensitive to dopamine in certain areas of the brain.

Benzodiazopenes and clonidine have also been shown to work to a degree on TS symptoms but they are generally less effective than other drugs.

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Future Directions

Genetic studies will help health professionals understand the genetic risk factors for TS. This information may lead to therapies for treating or preventing TS, or even eliminating the genetic abnormality that causes TS.

Understanding how the brain's neurotransmitters (such as dopamine) are affected may also lead to therapies. Suppose that the abnormal gene causes one neurotransmitter to malfunction in one part of the brain-- what if there was a way to compensate for that one neurotransmitter? Although the real scientific explanation will probably not be this simple, understanding the role of neurotransmitters in TS is one important part of the puzzle.

Knowledge about how environmental factors such as stress or certain medications influence TS may also affect how medical professionals manage patients' symptoms. Brain imaging (MRI, for example) to visualize what structures of the brain are affected in TS may shed light on all aspects of TS and its treatment. ?

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Famous People with Tourette Syndrome

Jim Eisenreich, professional baseball player

Eisenreich was not diagnosed with Tourette Syndrome until he was 23 years old. His baseball career was put in jeopardy when his symptoms worsened. It took more than three years to find the right combination and dosage of antidepressants to control his symptoms, but he succeeded in doing so and continued his baseball career.

Eisenreich is a role model to young people with TS; at baseball games, he visits with children with TS, letting them see that he is leading a full life. He gives talks about living with Tourette syndrome and has appeared in a video for children called "Handling It Like a Winner."

Mahmoud Abdul-Rauf, professional basketball player

Abdul-Rauf (formerly named Chris Jackson) was one of the leading free-throw shooters in the NBA. He is featured in an independent documentary called "Twitch and Shout," which was produced by two people with TS. It has been suggested the Abdul-Rauf's obsessive-compulsive Tourette Syndrome traits underlie his amazing free throw success.

Samuel Johnson (1709-1784)

Johnson was a famous British writer who penned the Dictionary of the English Language and the Lives of Poets. His friends noted that he had almost constant tics and movements. He often made repeated noises, and blew to make whistling noises. He was also compulsive, engaging in complex rituals before going through a doorway (such as making certain gestures many times before leaving a room). Although this is circumstantial evidence, it is probable that Dr. Johnson had Tourette syndrome.

Wolfgang Amadeus Mozart (1756-1791)

In 1992, an article was written in the British Medical Journal, speculating that Mozart had Tourette Syndrome. The truth is we will probably never know whether he had Tourette Syndrome. What we do know is that he wrote letters to his cousin Maria that contained many obscene words, especially words having to do with bodily functions. It has also been documented that he was hyperactive, suffered from mood swings, had tics, and loved made-up words.

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