Tourette differs from other neuropsychiatric disorders in one simple way: It is largely a disease of the onlooker. When I tic, I am usually not the problem. You are. In large part, the discomfort, annoy- ance, and intervention of onlookers are what make me a Tourette sufferer. If I have a tic and there is no one there to mock me, is it a tic? It will distract me a bit, briefly disrupt my concentration, drain away a little energy, but I am well accustomed to this.
Tourette has taught me to weather my tics and plow ahead. The dismay of others can be a heavier burden. To be mocked every day at school or on the playground is hard on a young boy. But I understood, even as a child, that most of my classmates and teach- ers were not mean-spirited. As I ticced, they simply could not help but stare at me, ask me what was wrong, imitate me, or even tell me to “stop it, stop it, now!” These things were hurtful, but not unexpected. I was a disor- dered body in their field of view, and they could not resist the urge to establish order. But there was also a wonderful, ongoing surprise in my childhood and adolescence: those closest to me remained outwardly unperturbed by even my most baroque tics. If I have succeeded in life despite having Tourette, it is in large part because I had the good fortune to be a ticcing young boy who had some compassion- ate onlookers—a loving family and friends who simply let me tic—and a marvelous, intuitive doctor who convinced me that everything would be OK.
THE MISFIRING BRAIN
A clinician or a Tourette patient will notice people on the street who display tics too subtle or well disguised to attract the atten- tion of the average passerby. Tourette is a developmental disorder of the brain, a disturbance in the flow of information that stimulates or inhibits movements. It typically emerges during early childhood when the wiring patterns of the brain are being extended and modified.
Many of the children are already being pestered by classmates and grown-ups and are learning to disguise their tics as voluntary movements. Most of these tics will vanish within months as the children, and their brains, mature.
Walking into an event at my son’s elementary school—and so placing myself among hundreds of developing basal ganglia
—I can easily pick out a dozen or more children with tics. Some have a single, simple tic, such as eye blinking or neck jerking, others more complicated repertoires. Many of the children are already being pestered by classmates and grown-ups and are learning to disguise their tics as voluntary movements. Most of these tics will vanish within months as the children, and their brains, mature. But some of these children will continue to experience tics as they grow, and in a very few (perhaps 1 in 50) the severity and complexity of the tics will increase until their parents seek help from a physician. When they do, those children with Tourette will have a good chance of receiving an accurate diagnosis. They and their parents will be greatly relieved simply to hear an explanation of their disorder from an empa- thetic clinician. And, although there is no cure for Tourette, not even a robustly reliable treatment, many patients will benefit from medication or behavioral therapy.
The longer view is better still: recent advances in our understanding of the neural mechanism and causes of Tourette are likely to bring major improvements in treatment in the lifetime of today’s newly diagnosed patients. Altogether, it makes an encouraging picture, but, as I have reason to know, this has not always been the case.
UNDERSTANDING “LA MALADIE DES TICS DE GILLES DE LA TOURETTE”
Georges Gilles de la Tourette, like Amerigo Vespucci, has had his name attached to something he did not, strictly speaking, discover. During the late 19th century, Gilles de la Tourette, along with a young Sigmund Freud, pursued medical practice and advanced study in Jean-Martin Charcot’s clinic in the Salpetriere Hospital in Paris. There, a colorful historical case of severe tic disorder was brought to his attention and may have stimulated his own work with a handful of similar patients. In 1885, he published his groundbreaking description of the disorder, marking a starting line of sorts for a century of clinical investigation.1 Later in the same year, his mentor Charcot assured Gilles de la Tourette a place in history by naming the disorder after him. Unfortunately, Gilles de la Tourette’s own organic, neurological view of his eponymous syndrome did not immediately set the pattern for future studies or treatment of tic disorders. For most of the 20th century, Tourette syndrome was considered so rare that it captured the interest of relatively few clinicians or medical researchers. Although some disorders spawned turf wars between the specialties of neurology and psychiatry, not so Tourette, which was so far under
the radar of the average clinician that one prominent psychiatrist told me, “There was no turf war over Tourette, because there was no turf.”
During my youth in the 1960s and 1970s, neurologists largely abandoned the Tourette turf to psychiatrists, who at that time had neither the tools for nor the interest in treating disorders with obvious organic origins. But during this time, neuroscience
High-resolution neuroimaging, molecular neurobiology, and detailed genetic studies, along with the full elucidation of the human genome, are leading us to a time when drugs and treatment protocols can be designed specifically for Tourette, or even for the varied needs of individual patients.
was producing an explosion of knowledge about brain chemistry. This increased knowl- edge helped spawn a rigorous, scientifically oriented psychiatry that began to seek biological explanations for disorders of the brain and mind. In this milieu emerged the first effective treatment for severe Tourette, the antipsychotic drug haloperidol.
Just as important as those advances was the formation of the Tourette Syndrome Association (TSA)2 by a group of patient families. In three decades of existence, this organization has managed not only to carry out a successful program of service for patient families but also to dramatically increase the awareness of both clinicians and the public about Tourette. More remarkable —and perhaps more important—TSA has used a modest research fund to catalyze the growth of a whole community of active researchers and clinicians working on the causes, courses, and treatments of Tourette.
The 21st century begins with medical researchers pursuing working hypotheses about the anatomical, physiological, embryological, and immunological bases of Tourette.3 Recent studies have focused our attention on particular brain circuits, those involving the thalamus, corpus striatum, and cortex that play a role in coordinating and controlling psychomotor behavior. Either excessive stimulation or disinhibition of some of these circuits, caused by defects in how some of the nerve cells in these circuits use the neurotransmitter dopamine, may underlie the production of tics. But altered properties of other classes of nerve cells that use different neurotransmitters may also be involved in tics. Thus, it is no surprise that detailed genetic studies of Tourette indicate that it cannot be attributed to variation in a single gene. It also seems possible that environmental factors, such as perinatal environment or autoimmune responses to infection, play a role in the development of some cases of Tourette.