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Rhythmic cortical myoclonus in Niemann–Pick disease type C
Author(s) -
Canafoglia Laura,
Bugiani Marianna,
Uziel Graziella,
Dalla Bernardina Bernardo,
Ciano Claudia,
Scaioli Vidmer,
Avanzini Giuliano,
Franceschetti Silvana,
Panzica Ferruccio
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20984
Subject(s) - myoclonus , electroencephalography , myoclonic jerk , photic stimulation , neuroscience , rhythm , medicine , audiology , progressive myoclonus epilepsy , movement disorders , electromyography , psychology , physical medicine and rehabilitation , disease , visual perception , perception
We here describe a patient with late‐infantile Niemann–Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) –polymyographic examinations showed abnormally high and diffuse background alpha‐activity, enhanced by intermittent photic stimulation. The electromyographic (EMG) showed quasirhythmic myoclonic jerks during motor activation. EEG–EMG frequency analysis (better than jerk‐locked back‐averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC. © 2006 Movement Disorder Society