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Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years

Authors

  • Naheed L. Khan MD, MRCP,

    1. Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom
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  • Wagner Horta MD,

    1. Hospital Universitario Walter Cantidio, Neurology Service and Movement Disorders Department, Federal University of Ceara, Fortaleza, Ceara, Brazil
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  • Louise Eunson BSc, PhD,

    1. Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom
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  • Elizabeth Graham BSc,

    1. Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom
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    • Deceased.

  • Janel O. Johnson BS,

    1. Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
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  • Shannon Chang BS,

    1. Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
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  • Mary Davis PhD, MRCPath,

    1. Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom
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  • Andrew Singleton PhD,

    1. Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
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  • Nicholas W. Wood MD, FRCP, PhD,

    1. Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom
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  • Andrew J. Lees MD, FRCP

    Corresponding author
    1. Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom
    2. Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School, London, United Kingdom
    • Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School, Windmeyer Bldg., 46 Cleveland St., London W1T 4JF, United Kingdom
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Abstract

We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent. © 2005 Movement Disorder Society

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