MovDisordV3, Main, Merge, bibRecord, 004A06

Rhythmic cortical myoclonus in niemann-pick disease type C

Identifieur interne : 004A06 ( Main/Merge ); précédent : 004A05; suivant : 004A07

Rhythmic 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.

RBID : Pascal:06-0518101

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Myoclonie, Sphingolipidose héréditaire Niemann Pick, Electroencéphalographie, Electromyographie, Cohérence, Lipide, Stockage.
Wicri :
- topic : Stockage.

English descriptors

KwdEn :
- Coherence, Electroencephalography, Electromyography, Lipids, Myoclonus, Nervous system diseases, Niemann Pick disease, Storage.

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.

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 001995
to stream PascalFrancis, to step Curation: 001326
to stream PascalFrancis, to step Checkpoint: 001911

Links to Exploration step

Pascal:06-0518101

Le document en format XML

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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>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Myoclonie</term>
<term>Sphingolipidose héréditaire Niemann Pick</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>
</TEI>
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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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<name sortKey="Avanzini, Giuliano" sort="Avanzini, Giuliano" uniqKey="Avanzini G" first="Giuliano" last="Avanzini">Giuliano Avanzini</name>
<name sortKey="Bernardina, Bernardo Dalla" sort="Bernardina, Bernardo Dalla" uniqKey="Bernardina B" first="Bernardo Dalla" last="Bernardina">Bernardo Dalla Bernardina</name>
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<name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name>
<name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name>
<name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name>
<name sortKey="Scaioli, Vidmer" sort="Scaioli, Vidmer" uniqKey="Scaioli V" first="Vidmer" last="Scaioli">Vidmer Scaioli</name>
<name sortKey="Uziel, Graziella" sort="Uziel, Graziella" uniqKey="Uziel G" first="Graziella" last="Uziel">Graziella Uziel</name>
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</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Rhythmic cortical myoclonus in niemann-pick disease type C

Rhythmic cortical myoclonus in niemann-pick disease type C

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri