ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

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 Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany
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  • Coro Paisan-Ruiz PhD,

    1. Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square; London, United Kingdom
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  • Niall P. Quinn MD, FRCP,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London, United Kingdom
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  • Andrew J. Lees MD, FRCP,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square; London, United Kingdom
    2. Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square; London, United Kingdom
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  • Henry Houlden MD, PhD,

    1. Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square; London, United Kingdom
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  • John Hardy PhD,

    Corresponding author
    1. Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square; London, United Kingdom
    • Reta Lila Weston Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom
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  • Kailash P. Bhatia MD, FRCP

    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, UCL Institute of Neurology, Queen Square; London WC1N 3BG, United Kingdom
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  • Potential conflict of interest: Nothing to report.

Abstract

Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal-pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically-proven KRD case. Clinically, there was early onset levodopa-responsive dystonia-parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia-parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3. © 2010 Movement Disorder Society

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