Tourette syndrome: prediction of phenotypic variation in monozygotic twins by caudate nucleus D2 receptor binding

Science. 1996 Aug 30;273(5279):1225-7. doi: 10.1126/science.273.5279.1225.

Abstract

Tourette syndrome, a chronic tic disorder with autosomal dominant inheritance, exhibits considerable phenotypic variability even within monozygotic twin pairs. The origins of this variability remain unclear. Recent findings have implicated the caudate nucleus as a locus of pathology, and pharmacological evidence supports dopaminergic involvement. Within monozygotic twins discordant for Tourette syndrome severity, differences in D2 dopamine receptor binding in the head of the caudate nucleus predicted differences in phenotypic severity (r = 0.99); this relation was not observed in putamen. These data may link Tourette syndrome with a spectrum of neuropsychiatric disorders that involve associative striatal circuitry.

Publication types

  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Adult
  • Benzamides / metabolism
  • Caudate Nucleus / metabolism*
  • Diseases in Twins*
  • Dopamine Antagonists / metabolism
  • Female
  • Humans
  • Male
  • Phenotype
  • Putamen / metabolism
  • Pyrrolidines / metabolism
  • Receptors, Dopamine D2 / metabolism*
  • Tomography, Emission-Computed, Single-Photon
  • Tourette Syndrome / genetics
  • Tourette Syndrome / metabolism*
  • Twins, Monozygotic*

Substances

  • Benzamides
  • Dopamine Antagonists
  • Pyrrolidines
  • Receptors, Dopamine D2
  • 3-iodo-2-hydroxy-6-methoxy-N-((1-ethyl-2-pyrrolidinyl)methyl)benzamide