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

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.

• Authors: H Takahashi, R A Levine, M P Galloway, B J Snow, D B Calne, T G Nygaard
• Journal: Annals of neurology (Ann Neurol) Vol. 35 Issue 3 Pg. 354-6 (Mar 1994) ISSN: 0364-5134 [Print] United States
• PMID: 8122887 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Fluorine Radioisotopes
• Biopterin
• Levodopa
• Neopterin
• Homovanillic Acid

Topics

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