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


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
Issue number9
Publication statusPublished - Sep 2006


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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


Dive into the research topics of 'Rhythmic cortical myoclonus in Niemann-Pick disease type C'. Together they form a unique fingerprint.

Cite this