Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia

Ann Neurol. 1994 Mar;35(3):354-6. doi: 10.1002/ana.410350317.

Abstract

We report cerebrospinal fluid monoamine metabolite analyses and 6-[18F]fluoro-1-dopa positron emission tomography (FD-PET) from an asymptomatic carrier of the gene for dopa-responsive dystonia. Cerebrospinal fluid homovanillic acid, tetrahydrobiopterin, and neopterin concentrations were reduced in this man and in his affected children. His FD-PET was normal, as we have previously found in dopa-responsive dystonia. Neurological function and FD-PET may be normal despite marked abnormality in dopamine metabolism.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biopterins / analogs & derivatives
  • Biopterins / cerebrospinal fluid
  • Dystonia / cerebrospinal fluid
  • Dystonia / diagnostic imaging*
  • Dystonia / genetics*
  • Female
  • Fluorine Radioisotopes
  • Heterozygote*
  • Homovanillic Acid / cerebrospinal fluid
  • Humans
  • Levodopa
  • Male
  • Neopterin
  • Pedigree
  • Tomography, Emission-Computed*

Substances

  • Fluorine Radioisotopes
  • Biopterins
  • Levodopa
  • Neopterin
  • Homovanillic Acid