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  • Title: Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia.
    Author: Takahashi H, Levine RA, Galloway MP, Snow BJ, Calne DB, Nygaard TG.
    Journal: Ann Neurol; 1994 Mar; 35(3):354-6. PubMed ID: 8122887.
    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.
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