Clinicopathological review of pallidonigroluysian atrophy

Authors

  • Janice C. Wong MD,

    1. Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada
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    • Janice C. Wong and Melissa J. Armstrong contributed equally to this article as first authors.

  • Melissa J. Armstrong MD,

    1. Department of Medicine (Neurology), University of Toronto, Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada
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    • Janice C. Wong and Melissa J. Armstrong contributed equally to this article as first authors.

  • Anthony E. Lang MD, FRCPC,

    1. Department of Medicine (Neurology), University of Toronto, Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada
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  • Lili-Naz Hazrati MD, PhD, FRCPC

    Corresponding author
    • Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada
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  • Funding agencies: Melissa J. Armstrong was supported as an Edmond J. Safra Fellow at the Toronto Western Hospital Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease. Additional support was provided through a Center of Excellence Award from the National Parkinson Foundation.

  • Relevant conflicts of interest/financial disclosures: Nothing to report.

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

Correspondence to: Lili-Naz Hazrati, Tanz Center for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, 6 Queen's Park Crescent West, Toronto, ON M5S 3H2, Canada; lilinaz.hazrati@utoronto.ca

Abstract

Pallidonigroluysian atrophy is a rare neurodegenerative disease characterized by degeneration of the globus pallidus, substantia nigra, and subthalamic nucleus. Few studies have comprehensively documented the clinical and pathological features of pallidonigroluysian atrophy. A systematic review of all published cases of pallidonigroluysian atrophy in English since 1970 was performed. We also report a new case of pallidonigroluysian atrophy. Twenty-five cases of pathologically proven pallidonigroluysian atrophy were reviewed, 24 from the literature and 1 of our own. Average age of onset was 54.3 ± 14.3 years, and average duration of disease was 7.9 ± 5.8 years. The most common first symptom was gait or balance disturbance. Patients had a diversity of movement disorders, including chorea in 5 cases (20%). Nine cases (36%) had coexistent motor neuron disease. Almost all cases had gliosis, and many cases had iron-positive pigments in the pallidonigroluysian system. Tauopathy was absent to rare in this region. Widespread tau-negative, p62-positive glial inclusions, described in 1 previous case, were also present in our patient. As pallidonigroluysian atrophy has a diversity of clinical presentations, it is best defined neuropathologically. The relative lack of tauopathy and the presence of p62-positive glial inclusions or iron-positive pigments in the pallidonigroluysian region may help to distinguish pallidonigroluysian atrophy from similar disease entities. © 2012 Movement Disorder Society

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