Familial cortical tremor with epilepsy and cerebellar pathological findings

Mov Disord. 2004 Feb;19(2):213-7. doi: 10.1002/mds.10662.

Abstract

The clinical and neuropathological findings in a patient with familial cortical tremor with epilepsy (FCTE) are described. Clinically, the patient showed cortical myoclonus, tremor, and generalized seizures. Pathological investigation showed cerebellar degeneration and somal sprouting and loss of dendritic tree in Purkinje cells. Striking similarities were found in diseases caused by channelopathies such as spinocerebellar ataxia subtype 6.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cerebellum / pathology
  • Cerebral Cortex* / pathology
  • Dendrites / physiology
  • Epilepsies, Myoclonic / diagnosis*
  • Epilepsies, Myoclonic / genetics
  • Epilepsies, Myoclonic / pathology
  • Epilepsy, Generalized / diagnosis*
  • Epilepsy, Generalized / genetics
  • Epilepsy, Generalized / pathology
  • Essential Tremor / diagnosis*
  • Essential Tremor / genetics
  • Essential Tremor / pathology
  • Female
  • Humans
  • Immunoenzyme Techniques
  • Nerve Regeneration / genetics
  • Netherlands
  • Pedigree
  • Purkinje Cells / pathology
  • Spinocerebellar Degenerations / diagnosis*
  • Spinocerebellar Degenerations / genetics
  • Spinocerebellar Degenerations / pathology