Abstract
We here describe a patient with late-infantile Niemann-Pick disease type C (NPQ 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
Original language | English |
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Pages (from-to) | 1453-1456 |
Number of pages | 4 |
Journal | Movement Disorders |
Volume | 21 |
Issue number | 9 |
DOIs | |
Publication status | Published - Sep 2006 |
Keywords
- Action myoclonus
- EEG-EMG coherence
- Lipid storage
- PME
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)