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Movement disorders in spinocerebellar ataxias

Authors

  • Judith van Gaalen MD,

    1. Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • Paola Giunti MD,

    1. Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom
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  • Bart P. van de Warrenburg MD, PhD

    Corresponding author
    1. Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • Department of Neurology 935, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
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  • Relevant conflict of interest/financial disclosures: Nothing to report.

    Full financial disclosures and author roles may be found in the online version of this article.

Abstract

Autosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of noncerebellar symptoms, including movement disorders. In fact, movement disorders are frequent in many of the various SCA subtypes, and they can be the presenting, dominant, or even isolated disease feature. When combined with cerebellar ataxia, the occurrence of a specific movement disorder can provide a clue toward the underlying genotype. There are reasons to believe that for some coexisting movement disorders, the cerebellar pathology itself is the culprit, for example, in the case of cortical myoclonus and perhaps dystonia. However, movement disorders in SCAs are more likely related to extracerebellar pathology, and imaging and neuropathological data indeed show involvement of other parts of the motor system (substantia nigra, striatum, pallidum, motor cortex) in some SCA subtypes. When confronted with a patient with an isolated movement disorder, that is, without ataxia, there is currently no reason to routinely screen for SCA gene mutations, the only exceptions being SCA2 in autosomal dominant parkinsonism (particularly in Asian patients) and SCA17 in the case of a Huntington's disease–like presentation without an HTT mutation. © 2011 Movement Disorder Society

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