Cerebellar Pathology of a Dual Clinical Diagnosis: Patients with Essential Tremor and Dystonia

  • Karen Ma
  • Rachel Babij
  • Etty Cortés
  • Jean-Paul G. Vonsattel
  • Elan D. Louis

Abstract

Background: Clinical studies have implicated the cerebellum in the pathogenesis of essential tremor (ET), and recent postmortem studies have identified structural changes in the ET cerebellum. While the basal ganglia have traditionally been implicated in dystonia, cerebellar involvement has been suggested as well, and a recent study showed Purkinje cell (PC) loss. We conducted a detailed postmortem examination of the brain in four individuals with clinical diagnoses of ET and dystonia, and hypothesized that pathological changes in the cerebellum would be greater in these four ET cases than in published ET cases without dystonia.

Methods: After a complete neuropathological assessment, a standard parasagittal neocerebellar tissue block was harvested in each brain. One 7-µm thick section was stained with luxol fast blue/hematoxylin and eosin, and one section with the Bielschowsky method. We quantified PCs, torpedoes, heterotopic PCs, PC dendritic swellings, and basket cell changes.

Results: Two ET+dystonia cases had more microscopic changes in the cerebellum than published ET cases; the other two cases had similar changes to published ET cases.

Discussion: This is the first report that uses human autopsy tissue to study patients with both ET and dystonia. The findings were heterogeneous. Additional studies, with larger samples, are needed.