Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations

Authors

  • Ruey-Meei Wu MD, PhD,

    1. Departments of Neurology, Pediatrics and Medical Genetics, College of Medicine, National Taiwan University, and National Taiwan University Hospital, Taipei, Taiwan, Republic of China
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  • Din-E Shan MD, PhD,

    1. Neurological Institute and the National PET/Cyclotron Center, Taipei Veterans General Hospital and National Yang-Ming University School of Medicine, Taipei, Taiwan, Republic of China
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  • Chen-Ming Sun MD,

    1. Neurological Institute and the National PET/Cyclotron Center, Taipei Veterans General Hospital and National Yang-Ming University School of Medicine, Taipei, Taiwan, Republic of China
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  • Ren-Shyan Liu MD,

    1. Neurological Institute and the National PET/Cyclotron Center, Taipei Veterans General Hospital and National Yang-Ming University School of Medicine, Taipei, Taiwan, Republic of China
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  • Wuh-Liang Hwu MD, PhD,

    1. Departments of Neurology, Pediatrics and Medical Genetics, College of Medicine, National Taiwan University, and National Taiwan University Hospital, Taipei, Taiwan, Republic of China
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  • Chun-Hwei Tai MD,

    1. Departments of Neurology, Pediatrics and Medical Genetics, College of Medicine, National Taiwan University, and National Taiwan University Hospital, Taipei, Taiwan, Republic of China
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  • Jennifer Hussey BSc,

    1. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA
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  • Andrew West BSc,

    1. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA
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  • Katrina Gwinn-Hardy MD,

    1. National Institute of Neurological disease and Stroke, NIH, Division of Neurogenetics, Bethesda Maryland, USA
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  • John Hardy PhD,

    1. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA
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  • Judy Chen MD,

    1. University of California Los Angeles, Department of Medicine, Los Angeles, California, USA
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  • Matt Farrer PhD,

    Corresponding author
    1. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA
    • Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Birdsall Building, Jacksonville, FL 32224
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  • Sarah Lincoln BSc

    1. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA
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Abstract

We report on clinical 18F-labeled 6-fluorodopa (18F-dopa) positron emission tomography (PET) and molecular genetic analyses of an ethnic Chinese family in which three siblings presented with early-onset Parkinson's disease. As described in some parkin patients, neither sleep benefit nor diurnal fluctuation was noted. Interestingly, depression, anxiety, and obsessive–compulsive disorders were manifest. The 18F-dopa PET scans showed bilateral presynaptic dopaminergic dysfunction without marked lateralization. Molecular genetic analysis showed identical chromosome 6 haplotypes inherited by affected subjects, with alternate allelic deletions of parkin exons 3 and 4. Furthermore, mRNA analyses identified aberrantly spliced parkin transcripts, suggesting that unusual parkin protein isoforms may be expressed in the brain and retain some function. © 2002 Movement Disorder Society

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