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G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

Authors

  • Jose Miguel Bras MS,

    1. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
    2. Institute of Biochemistry, Faculty of Medicine, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal
    3. Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, Maryland, USA
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  • Rita Joao Guerreiro MS,

    1. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
    2. Institute of Biochemistry, Faculty of Medicine, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal
    3. Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, Maryland, USA
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  • Maria Helena Ribeiro BS,

    1. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
    2. Institute of Biochemistry, Faculty of Medicine, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal
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  • Cristina Januario MD,

    1. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
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  • Ana Morgadinho MD,

    1. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
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  • Catarina Resende Oliveira MD, PhD,

    1. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
    2. Institute of Biochemistry, Faculty of Medicine, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal
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  • Luis Cunha MD, PhD,

    1. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
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  • John Hardy PhD,

    1. Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, Maryland, USA
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  • Andrew Singleton PhD

    Corresponding author
    1. Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, Maryland, USA
    • Laboratory of Neurogenetics, National Institutes on Aging, NIH, Room A1A, Porter Neuroscience Center, 35 Convent Road, Bethesda, MD 20852
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Abstract

LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. © 2005 Movement Disorder Society

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