Electrophysiological studies of myoclonus in sialidosis type 2

Shozo Tobimatsu, Ritsuko Fukui, Hiroshi Shibasaki, Motohiro Kato, Yoshigoro Kuroiwa

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    12 Citations (Scopus)


    Electrophysiological investigation was performed in 3 patients with β-galactosidase and sialidase deficiencies (sialidosis type 2) in order to elucidate the underlying mechanism of intention myoclonus. It is a rare neuronal storage disease that begins in childhood with mental retardation, skeletal abnormalities, progressive myoclonus and cherry-red spots in the macula. Electrophysiological studies showed paroxysmal activities in the EEG, consistent temporal relationship between the EEG spikes and myoclonic jerks demonstrated by jerk-locked averaging, high amplitude somatosensory evoked potentials with altered wave form, and enhanced long-loop reflexes. These results suggest that there is a hyperexcitability of the cerebral cortex, which results in induction of intention myoclonus. The intention myoclonus in sialidosis type 2 is consistent with 'cortical reflex' myoclonus described in progressive myoclonic epilepsy due to various etiologies.

    Original languageEnglish
    Pages (from-to)16-22
    Number of pages7
    JournalElectroencephalography and Clinical Neurophysiology
    Issue number1
    Publication statusPublished - Jan 1985

    All Science Journal Classification (ASJC) codes

    • Neuroscience(all)
    • Clinical Neurology


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