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Lack of effect of polymorphisms in dopamine metabolism related genes on imaging of TRODAT-1 in striatum of asymptomatic volunteers and patients with Parkinson's disease

Authors

  • David R. Lynch MD, PhD,

    Corresponding author
    1. Department of Neurology, University of Pennsylvania and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    2. Department of Pediatrics, University of Pennsylvania and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    • Division of Neurology, Children's Hospital of Philadelphia, 502 Abramson Building, Philadelphia, PA 19104-4318
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  • P. David Mozley MD,

    1. Department of Radiology, University of Pennsylvania and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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  • Set Sokol BA,

    1. Department of Neurology, University of Pennsylvania and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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  • Nicole M.C. Maas MD,

    1. Department of Pediatrics, University of Pennsylvania and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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  • Laura J. Balcer MD, MSCE,

    1. Department of Neurology, University of Pennsylvania and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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  • Andrew D. Siderowf MD

    1. Department of Neurology, University of Pennsylvania and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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Abstract

SPECT scanning using 99Tc-TRODAT-1, a ligand that binds to dopamine transporters, may be useful for detection of early Parkinson's disease (PD), diagnosis of presymptomatic individuals, and monitoring disease progression. Understanding whether genetic factors contribute to inter-individual variability is crucial for interpreting imaging results in the context of disease pathophysiology. We tested whether polymorphisms in the genes for catechol-O-methyltransferase (COMT), monoamine-oxidase B (MAO-B), and the dopamine transporter (DAT) influence dopamine uptake parameters in the striatum in vivo in asymptomatic volunteers and patients with PD as measured with 99Tc-TRODAT-1. 99Tc-TRODAT-1 binding declined with age in both asymptomatic volunteers and PD patients, and depended on disease duration in PD patients. We found no significant association between COMT, MAO-B, and DAT polymorphisms and results of 99Tc-TRODAT-1 testing in asymptomatic volunteers or patients with PD. In PD patients, the age of disease onset and speed of progression did not differ based on these polymorphisms. These results demonstrate that these specific genetic variations do not alter the fidelity of 99Tc-TRODAT-1 as a measure of dopaminergic function in asymptomatic volunteer individuals or patients with PD. © 2003 Movement Disorder Society

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