Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation

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4 Scopus citations


We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation. Our purpose was to: (1) characterize the tremor patterns, (2) characterize the myoclonus physiology, (3) determine whether electrophysiology can detect abnormalities in asymptomatic cases. In PPND, we found that the activation tremors correlated with a semi-rhythmic 6-10 Hz electromyography (EMG) pattern, and the rest tremors showed a reciprocal 4-6 Hz pattern. At least two different myoclonus physiology patterns exist in PPND, most notably contrasted by the presence or absence of a demonstrable electroencephalography (EEG) correlate. Electrophysiology yielded remarkable findings in those asymptomatic at-risk individuals that carried the N279K tau mutation.

Original languageEnglish (US)
Pages (from-to)151-157
Number of pages7
JournalParkinsonism and Related Disorders
Issue number3
StatePublished - Jan 1 2003


  • Electroencephalography
  • Electromyography
  • Electrophysiological analysis
  • Frontotemporal dementia and parkinsonism linked to chromosome 17
  • N279K tau mutation
  • Pallido-ponto-nigral degeneration family

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology


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