Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

Authors

  • Sian D. Spacey MD,

    1. Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom
    2. Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
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  • Enza-Maria Valente MD,

    1. Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom
    2. Department of Neurology, Catholic University, Rome, Italy
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  • Gurusidheshwar M. Wali MD, DM,

    1. Department of Neurology, Jawnharlal Nehru Medical Centre, KLE Society Hospital, Belguam, Karnataka, India
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  • Thomas T. Warner PhD, MRCP,

    1. Royal Free and University College Medical School, University College London, London, United Kingdom
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  • Paul R. Jarman PhD, MRCP,

    1. Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom
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  • Anthony H.V. Schapira MD, FRCP,

    1. Royal Free and University College Medical School, University College London, London, United Kingdom
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  • Peter H. Dixon PhD,

    1. Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom
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  • Mary B. Davis PhD,

    1. Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom
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  • Kailash P. Bhatia MD, MRCP,

    1. Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom
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  • Nicholas W. Wood PhD, FRCP

    Corresponding author
    1. Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom
    • Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London, United Kingdom, WC1N 3BG
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Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous. © 2002 Movement Disorder Society

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