Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation.
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.
Caviness
John N
JN
Department of Neurology, Parkinson's Disease and Movement Disorders Center, Mayo Clinic Scottsdale, 13400 East Shea Boulevard, Scottsdale, AZ 85259, USA. jcaviness@mayo.edu
Tsuboi
Yoshio
Y
Wszolek
Zbigniew K
ZK
D004576:Electromyography / Q000379:methods; D004594:Electrophysiology; D006801:Humans; D009154:Mutation / Q000502:physiology*; D009207:Myoclonus / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D014202:Tremor / Q000235:genetics* / Q000503:physiopathology; D016875:tau Proteins / Q000378:metabolism*
D016875:tau Proteins