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Cortical myoclonus in Huntington's disease

Mov Disord. 1994 Nov;9(6):633-41. doi: 10.1002/mds.870090609.

Abstract

We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alleles
  • Cerebral Cortex / physiopathology*
  • DNA / genetics
  • Electroencephalography
  • Electromyography
  • Evoked Potentials, Somatosensory / physiology
  • Female
  • Humans
  • Huntington Disease / genetics*
  • Huntington Disease / pathology
  • Huntington Disease / physiopathology
  • Male
  • Myoclonus / genetics*
  • Myoclonus / pathology
  • Myoclonus / physiopathology
  • Neurologic Examination
  • Pedigree
  • Polymerase Chain Reaction
  • Reflex / physiology

Substances

  • DNA