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Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)

Authors

  • Naheed L. Khan MD, MRCP,

    1. Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom
    2. MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
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  • Paola Giunti MD, PhD,

    1. Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom
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  • Mary G. Sweeney,

    1. Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom
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  • Christoph Scherfler,

    1. MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
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  • Michael O. Brien,

    1. Department of Neurology, Guys Hospital, London, United Kingdom
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  • Paola Piccini MD, PhD,

    1. MRC Clinical Sciences Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
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  • Nicholas W. Wood PhD, FRCP, FMedSci,

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

    Corresponding author
    1. Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom
    2. Reta Lila Weston Institute of Neurological Studies, Royal Free Hospital and University College Medical School, London, United Kingdom
    • Reta Lila Weston Institute of Neurological Studies, Royal Free Hospital and University College Medical School, Windeyer Building, 46 Cleveland Street, London W1P 6DB, United Kingdom
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Abstract

SCA6 is a slowly progressive, late-onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L-dopa–responsive with a pattern of 18F-dopa uptake similar to Parkinson's disease, and the second case was not L-dopa–responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy. © 2005 Movement Disorder Society

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