title: 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.affiliation: Neurodegenerative Disorder Center, University of British Columbia, Vancouver, Canada.
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: R A
authors.initials: RA
authors.lastname: Levine
authors.forename: M P
authors.initials: MP
authors.lastname: Galloway
authors.forename: B J
authors.initials: BJ
authors.lastname: Snow
authors.forename: D B
authors.initials: DB
authors.lastname: Calne
authors.forename: T G
authors.initials: TG
authors.lastname: Nygaard
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001708:Biopterins / Q000031:analogs & derivatives / Q000134:cerebrospinal fluid; D004421:Dystonia / Q000134:cerebrospinal fluid / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D005462:Fluorine Radioisotopes; D006579:Heterozygote; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D007980:Levodopa; D008297:Male; D019798:Neopterin; D010375:Pedigree; D014055:Tomography, Emission-Computed
chemical_list: D005462:Fluorine Radioisotopes; D001708:Biopterins; D007980:Levodopa; D019798:Neopterin; D006719:Homovanillic Acid