Rhythmic cortical myoclonus in Niemann-Pick disease type C

Laura Canafoglia, Marianna Bugiani, Graziella Uziel, Bernardo Dalla Bernardina, Claudia Ciano, Vidmer Scaioli, Guiliano Avanzini, Silvana Franceschetti, Ferruccio Panzica

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)1453-1456
Number of pages4
JournalMovement Disorders
Volume21
Issue number9
DOIs
Publication statusPublished - Sep 2006

Keywords

  • Action myoclonus
  • EEG-EMG coherence
  • Lipid storage
  • PME

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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