Rhythmic cortical myoclonus in niemann-pick disease type C
Identifieur interne : 004A06 ( Main/Merge ); précédent : 004A05; suivant : 004A07Rhythmic cortical myoclonus in niemann-pick disease type C
Auteurs : Laura Canafoglia [Italie] ; Marianna Bugiani [Italie] ; Graziella Uziel [Italie] ; Bernardo Dalla Bernardina [Italie] ; Claudia Ciano [Italie] ; Vidmer Scaioli [Italie] ; Giuliano Avanzini [Italie] ; Silvana Franceschetti [Italie] ; Ferruccio Panzica [Italie]Source :
- Movement disorders [ 0885-3185 ] ; 2006.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Stockage.
English descriptors
- KwdEn :
Abstract
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.
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Pascal:06-0518101Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Rhythmic cortical myoclonus in niemann-pick disease type C</title>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Coherence</term>
<term>Electroencephalography</term>
<term>Electromyography</term>
<term>Lipids</term>
<term>Myoclonus</term>
<term>Nervous system diseases</term>
<term>Niemann Pick disease</term>
<term>Storage</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Myoclonie</term>
<term>Sphingolipidose héréditaire Niemann Pick</term>
<term>Electroencéphalographie</term>
<term>Electromyographie</term>
<term>Cohérence</term>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
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<tree><country name="Italie"><region name="Lombardie"><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name>
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