Myoclonus generators in sialidosis

ObjectiveSialidosis is an inborn error of metabolism. There is evidence that the myoclonic movements observed in this disorder have a cortical origin, but this mechanism does not fully explain the bilaterally synchronous myoclonus activity frequently observed in many patients. We present evidence of...

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Bibliographic Details
Published in:Clinical neurophysiology practice 2022, Vol.7, p.169-173
Main Authors: Vial, Felipe, McGurrin, Patrick, Attaripour, Sanaz, d'Azzo, Alesandra, Tifft, Cynthia J, Toro, Camilo, Hallett, Mark
Format: Report
Language:English
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Summary:ObjectiveSialidosis is an inborn error of metabolism. There is evidence that the myoclonic movements observed in this disorder have a cortical origin, but this mechanism does not fully explain the bilaterally synchronous myoclonus activity frequently observed in many patients. We present evidence of a subcortical basis for synchronous myoclonic phenomena. MethodsElectromyographic investigations were undertaken in two molecularly and biochemically confirmed patients with sialidosis type-1. ResultsThe EMG recordings showed clear episodes of bilaterally synchronous myoclonic activity in contralateral homologous muscles. We also observed a high muscular-muscular coherence with near-zero time-lag between these muscles. ConclusionThe absence of coherence phase lag between the right-and-left homologous muscles during synchronous events indicates that a unilateral cortical source cannot fully explain the myoclonic activity. There must exist a subcortical mechanism for bilateral synchronization accounting for this phenomenon. SignificanceUnderstanding this mechanism may illuminate cortical-subcortical relationships in myoclonus.
ISSN:2467-981X
DOI:10.1016/j.cnp.2022.05.004