TY - JOUR
T1 - Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation
AU - Caviness, John N.
AU - Tsuboi, Yoshio
AU - Wszolek, Zbigniew K.
N1 - Funding Information:
We would like to thank all family members who participated in this research. We greatly appreciate the technical assistance of Ms Bonnie Jamieson, R.EEG.T., for technical assistance and Ms A. Strongosky, for coordination of the project. We thank Mike Hutton, PhD, for performing the genetic analysis. The study was supported by grants from Mayo Clinic Scottsdale (#630-99) and Mayo Clinic Jacksonville (#1688-99).
PY - 2003/1/1
Y1 - 2003/1/1
N2 - 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.
AB - 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.
KW - Electroencephalography
KW - Electromyography
KW - Electrophysiological analysis
KW - Frontotemporal dementia and parkinsonism linked to chromosome 17
KW - N279K tau mutation
KW - Pallido-ponto-nigral degeneration family
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U2 - 10.1016/S1353-8020(02)00034-2
DO - 10.1016/S1353-8020(02)00034-2
M3 - Article
C2 - 12573870
AN - SCOPUS:0037269422
SN - 1353-8020
VL - 9
SP - 151
EP - 157
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
IS - 3
ER -