title: Essential tremor with ubiquitinated intranuclear inclusions and cerebellar degeneration.
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.
  
  
  OBJECTIVE
  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.
authors.affiliation: GH Sergievsky Center. EDL2@columbia.edu
authors.forename: Elan D
authors.initials: ED
authors.lastname: Louis
authors.forename: Pietro
authors.initials: P
authors.lastname: Mazzoni
authors.forename: Karen J
authors.initials: KJ
authors.lastname: Ma
authors.forename: Carol B
authors.initials: CB
authors.lastname: Moskowitz
authors.forename: Arlene
authors.initials: A
authors.lastname: Lawton
authors.forename: Anthony
authors.initials: A
authors.lastname: Garber
authors.forename: Jean-Paul G
authors.initials: JP
authors.lastname: Vonsattel
mesh_terms: D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D020329:Essential Tremor / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology*; D009410:Nerve Degeneration / Q000473:pathology*; D054875:Ubiquitination