Characteristic head drops and axial extension in advanced chorea-acanthocytosis

Authors

  • Susanne A. Schneider MD, PhD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, United Kingdom
    2. Schilling-Section of Neurogenetics, Department of Neurology, University of Lübeck, Luübeck, Germany
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  • Anthony E. Lang MD,

    1. Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN, Toronto, Ontario, Canada
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  • Elena Moro MD,

    1. Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN, Toronto, Ontario, Canada
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  • Benedikt Bader MD,

    1. Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Munich, Germany
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  • Adrian Danek MD,

    1. Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Munich, Germany
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  • Kailash P. Bhatia MD

    Corresponding author
    1. Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, United Kingdom
    • Sobell Department of Motor Neuroscience and Movement Disorders, The National Hospital for Neurology and Neurosurgery, UCL, Institute of Neurology, London WC1N 3 BG, United Kingdom

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  • Potential conflict of interest: Nothing to report.

Abstract

Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis. © 2010 Movement Disorder Society

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