Gilles de la Tourette syndrome: Further studies and thoughts

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Abstract
A possible association between the Gilles de la Tourette and Lesch‐Nyhan syndromes has recently been postulated. Fourteen patients with Tourette syndrome demonstrated no similarity to Lesch‐Nyhan based upon patterns of inheritance, behavioral changes, or alterations of purine metabolism. Despite a strong male predominance, a sex‐linked pattern of inheritance could not be confirmed. Self‐mutilating behavior was found in 4 male patients but was readily differentiated from that characteristic of the Lesch‐Nyhan syndrome. Quantitation of hypoxanthineguanine phosphoribosyltransferase and isoelectric focusing of its isoenzymes produced results that were indistinguishable from those in controls. We speculate that, pathophysiologically, Tourette syndrome represents an imbalance between the central neurotransmitters dopamine and serotonin rather than an alteration in purine metabolism.