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

doi:10.1002/mds.20984

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

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	1453-1456
Number of pages	4
Journal	Movement Disorders
Volume	21
Issue number	9
DOIs	https://doi.org/10.1002/mds.20984
Publication status	Published - Sep 2006

Keywords

Action myoclonus
EEG-EMG coherence
Lipid storage
PME

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

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Rhythmic cortical myoclonus in Niemann-Pick disease type C. / Canafoglia, Laura; Bugiani, Marianna; Uziel, Graziella; Bernardina, Bernardo Dalla; Ciano, Claudia ; Scaioli, Vidmer; Avanzini, Guiliano; Franceschetti, Silvana ; Panzica, Ferruccio.

In: Movement Disorders, Vol. 21, No. 9, 09.2006, p. 1453-1456.

Research output: Contribution to journal › Article › peer-review

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