Hunt for defective gene gets under way

January 6, 1995

Aston University scientists have begun the hunt for the elusive gene which causes Tourette Syndrome, a rare neuropsychiatric disease characterised by recurrent muscle tics and involuntary vocalisations.

Researchers from the phar-maceutical and biological scien-ces department, working with researchers from Birmingham University and London's National Hospital, are hoping that the discovery of the defective gene will lead them to the development of new treatments. Existing treatments -- mainly psychoactive drugs like haloperidol -- can have severe side effects such as loss of motivation.

Project leader Sheila Handley said: "Tourette Syndrome is a very cruel disorder. People are perfectly sane and interact perfectly well, but they have these unwanted tics that can devastate schooling and job achievement."

The disorder, first observed by Georges Gilles de la Tourette in 1885, usually starts in childhood and is thought to affect at least one in every 2,000 people. Author Samuel Johnson is thought to have suffered from the disease, a fact based on contemporary descriptions of his facial tics and strange vocalisations which interrupted his normal speech.

The obvious symptoms of Tourette Syndrome are coprolalia -- the compulsion to utter obscenities -- and echolalia -- the compulsion to repeat words. Muscle tics may involve self-mutilating behaviour such as hair-pulling, extreme nail-biting, and the biting of lips and tongue. These symptoms have a neurological rather than a psychiatric root and are genetically inherited.

The Aston project, funded by the Medical Research Council and the Tourette Syndrome Association, is studying more than 100 sufferers and their families over three years. Dr Handley said: "Our work has indentified a biochemical pathway that seems to be abnormal in sufferers, and if we can isolate why that abnormality arises, we can begin work on a more satisfactory treatment."

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