Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene.

@article{Nitschke1998DopaRD,
  title={Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene.},
  author={M Nitschke and Daniela Steinberger and Ilse Heberlein and Vivianne I. Otto and Ulrich Mueller and P. Vieregge},
  journal={Journal of neurology, neurosurgery, and psychiatry},
  year={1998},
  volume={64 6},
  pages={806-8}
}
A 26 year old woman with dopa responsive dystonia and cytogenetically confirmed Turner's syndrome had bilateral globus pallidus hypointensity on brain MRI. Among the living members of a five generation pedigree the patient's mother and the mother's sister also had dopa responsive dystonia; a maternal grandfather had senile parkinsonism, his niece isolated postural tremor. No other family member had Turner's syndrome. A new missense mutation in exon I of the gene of GTP-cyclohydrolase I was… CONTINUE READING