Presynaptic dopaminergic deficits in Lesch-Nyhan disease.

  title={Presynaptic dopaminergic deficits in Lesch-Nyhan disease.},
  author={Monique Ernst and Alan J. Zametkin and John A. Matochik and Daisy Pascualvaca and Peter H Jons and Kevin Hardy and J G Hankerson and Doris J. Doudet and Robert M. Cohen},
  journal={The New England journal of medicine},
  volume={334 24},
BACKGROUND Lesch-Nyhan disease is a rare, devastating, X-linked recessive disorder of purine synthesis. Patients present with hyperuricemia, choreoathetosis, dystonia, and aggressive and self-injurious behavior. Although the genetic and biochemical abnormalities have been identified, the causes of the neuropsychiatric syndrome remain unclear. METHODS We used positron-emission tomography to measure presynaptic accumulation of fluorodopa F 18 tracer in the dopaminergic regions of the brains of… CONTINUE READING
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