Essential tremor with ubiquitinated intranuclear inclusions and cerebellar degeneration

Elan D. Louis, Pietro Mazzoni, Karen J. Ma, Carol B. Moskowitz, Arlene Lawton, Anthony Garber, Jean Paul G. Vonsattel

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

Background: Essential tremor (ET), a progressive, age-associated disease, is one of the most common neurological disorders. Yet until recently, there had been few postmortem examinations so that the full range of pathological changes associated with this disease has not been catalogued. Objectives: We report a patient with ET who had a pattern of pathological change which to our knowledge has not previously been reported in ET or another neurological disease. Methods: Clinical-pathological case report. Results: The patient had adult-onset, non-familial, kinetic arm tremor that gradually worsened. Voice and head tremors were also present. The clinical diagnosis was ET. She died at age 102. On postmortem examination, there was severe segmental loss of Purkinje cells, Bergmann gliosis and numerous torpedoes in the cerebellum. The other outstanding change was the presence of neurons in the cerebral cortex and hippocampus that contained an ubiquitinated, nuclear inclusion. These inclusions were not detected in Luxol fast blue/hematoxylin and eosin-stained sections. Conclusions: This ET patient had a pattern of pathological change that has not been reported previously. This case further reinforces the view that ET is likely to be a heterogeneous family of degenerative diseases whose underlying pathological anatomy involves the cerebellum.

Original languageEnglish (US)
Pages (from-to)119-126
Number of pages8
JournalClinical Neuropathology
Volume31
Issue number3
DOIs
StatePublished - May 1 2012
Externally publishedYes

Keywords

  • Cerebellum
  • Movement disorder
  • Neurodegenerative
  • Pathology
  • Postmortem

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neurology
  • Clinical Neurology

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  • Cite this

    Louis, E. D., Mazzoni, P., Ma, K. J., Moskowitz, C. B., Lawton, A., Garber, A., & Vonsattel, J. P. G. (2012). Essential tremor with ubiquitinated intranuclear inclusions and cerebellar degeneration. Clinical Neuropathology, 31(3), 119-126. https://doi.org/10.5414/NP300414