Abstract：
:A 9-year-old female MELAS patient with myoclonus is reported, with emphasis on the results of electrophysiological studies of the myoclonus. At age 5 years she experienced a stroke-like episode, and a diagnosis of MELAS was made at age 6 years on the basis of muscle biopsy findings. At age 9 years spontaneous and segmental myoclonus, predominantly affecting the upper extremities, developed because of complications. Electrophysiological examination, including of somatosensory-evoked potentials (SEPs) and averaged EMG for long loop reflexes, revealed so-called "giant SEP" and enhanced long loop reflexes reflecting cortical hyperexicitability. Jerk-locked averaging yielded no myoclonus related spikes, but myoclonus-contingent 4-5 Hz theta bursts appeared. These findings suggest that some types of MELAS may be associated with cortical types of myoclonus.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Saitoh S,Kohsaka S,Mizukami S,Kajii Ndoi
10.1016/s0387-7604(12)80244-0keywords:
subject
Has Abstractpub_date
1992-07-01 00:00:00pages
260-3issue
4eissn
0387-7604issn
1872-7131pii
S0387-7604(12)80244-0journal_volume
14pub_type
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