Details

Autor(en) / Beteiligte

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

Titel

Rhythmic cortical myoclonus in Niemann-Pick disease type C

Ist Teil von

• Movement disorders, 2006-09, Vol.21 (9), p.1453-1456

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2006

Link zum Volltext

Quelle

Wiley Online Library

Beschreibungen/Notizen

• 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