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Rhythmic cortical myoclonus in Niemann–Pick disease type C

✍ Scribed by Laura Canafoglia; Marianna Bugiani; Graziella Uziel; Bernardo Dalla Bernardina; Claudia Ciano; Vidmer Scaioli; Giuliano Avanzini; Silvana Franceschetti; Ferruccio Panzica

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
117 KB
Volume
21
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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

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