Clinico-Pathological Correlation in Progressive Ataxia and Palatal Tremor: A Novel Tauopathy

Authors

  • Zoltan Mari MD,

    Corresponding author
    1. Human Motor Control Section, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
    2. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    • Correspondence to: Dr. Zoltan Mari, Department of Neurology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Suite 6-181-B, Baltimore, MD 21287, USA; E-mail: zmari1@jhmi.edu

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  • Andrew J.M. Halls BA,

    1. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • Alexander Vortmeyer MD, PhD,

    1. Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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  • Victoria Zhukareva PhD,

    1. Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    2. Department of Neurobiology and Anatomy, Drexel University School of Medicine, Philadelphia, Pennsylvania, USA
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  • Kunihiro Uryu PhD,

    1. Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    2. Electron Microscopy Resource Center, The Rockefeller University, New York, New York, USA
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  • Virginia M.-Y. Lee PhD, MBA,

    1. Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
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  • Mark Hallett MD

    1. Human Motor Control Section, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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Abstract

Palatal tremor (PT) is an uncommon movement disorder that has been subdivided into essential and symptomatic forms. A distinct subgroup of the symptomatic form presents with progressive ataxia and PT. The histopathology of progressive ataxia and PT has not been previously determined. This study consisted of a clinical review, histopathology, and electron microscopy of the brain of a man with progressive ataxia and PT. The inferior olivary hypertrophy was symmetrical and homogenous, and no focal pathologic lesions could be identified in the brainstem. Insoluble tau deposits were found in neurons, exclusively infratentorially. We present the clinical and pathological evaluation of a case of progressive ataxia and PT that provide evidence for a unique form of 4R tauopathy.

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