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Electrophysiological studies of myoclonus in sialidosis type 2

Electrophysiological studies of myoclonus in sialidosis type 2

Electroencephalography & Clinical Neurophysiology 60(1): 16-22

Electrophysiological investigation was performed in 3 patients with .beta.-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-blocked averaging, high amplitude somatosensory evoked potentials with altered wave form, and enhanced long-loop reflexes. 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.

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Accession: 005349775

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PMID: 2578348

DOI: 10.1016/0013-4694(85)90944-7

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