Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

Authors

  • Alberto J. Espay MD,

    1. Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    2. The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati, Cincinnati, Ohio, USA
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  • Catherine Bergeron MD, FRCPC,

    1. Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    2. Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network, Toronto, Ontario, Canada
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  • Robert Chen MBBChir, MSc, FRCPC,

    1. Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
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  • Anthony E. Lang MD, FRCPC

    Corresponding author
    1. Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    • Movement Disorders Centre, Toronto Western Hospital, 399 Bathurst Street, 7MC–403, Toronto, Ontario M5T 2S8, Canada
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Abstract

A 48-year-old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic. © 2006 Movement Disorder Society

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