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Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

Authors

  • Martin Kann BS,

    1. Department of Neurology, Medical University of Lübeck, Lübeck, Germany
    2. Department of Human Genetics, Medical University of Lübeck, Lübeck, Germany
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  • Helfried Jacobs MD,

    1. Department of Neurology, Medical University of Lübeck, Lübeck, Germany
    2. Department of Neurology, Hospital Rothenburg/Wümme, Rothenburg, Germany
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  • Kathrin Mohrmann BS,

    1. Department of Neurology, Medical University of Lübeck, Lübeck, Germany
    2. Department of Human Genetics, Medical University of Lübeck, Lübeck, Germany
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  • Kirsten Schumacher BS,

    1. Department of Neurology, Medical University of Lübeck, Lübeck, Germany
    2. Department of Human Genetics, Medical University of Lübeck, Lübeck, Germany
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  • Katja Hedrich MA,

    1. Department of Neurology, Medical University of Lübeck, Lübeck, Germany
    2. Department of Human Genetics, Medical University of Lübeck, Lübeck, Germany
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  • Jennifer Garrels BS,

    1. Department of Neurology, Medical University of Lübeck, Lübeck, Germany
    2. Department of Human Genetics, Medical University of Lübeck, Lübeck, Germany
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  • Karin Wiegers BS,

    1. Department of Neurology, Medical University of Lübeck, Lübeck, Germany
    2. Department of Human Genetics, Medical University of Lübeck, Lübeck, Germany
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  • Eberhard Schwinger MD,

    1. Department of Human Genetics, Medical University of Lübeck, Lübeck, Germany
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  • Peter P. Pramstaller MD,

    1. Department of Neurology, General Regional Hospital Bolzano, Bolzano, Italy
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  • Xandra O. Breakefield PhD,

    1. Molecular Neurogenetics Unit, Neurology Department, Massachusetts General Hospital and Department of Neurology, Harvard Medical School, Boston, MA
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  • Laurie J. Ozelius PhD,

    1. Albert Einstein College of Medicine, Molecular Genetics Department, Bronx, NY
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  • Peter Vieregge MD,

    1. Department of Neurology, Medical University of Lübeck, Lübeck, Germany
    2. Lippe-Lemgo Hospital, Lemgo, Germany
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  • Christine Klein MD

    Corresponding author
    1. Department of Neurology, Medical University of Lübeck, Lübeck, Germany
    2. Department of Human Genetics, Medical University of Lübeck, Lübeck, Germany
    • Klinik für Neurologie der Medizinischen Universität zu Lübeck, Ratzeburger Allee 160 D-23538 Lübeck, Germany
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Abstract

Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample.

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