Rhythmic cortical myoclonus in Niemann–Pick disease type C
Identifieur interne : 003200 ( Main/Exploration ); précédent : 003199; suivant : 003201Rhythmic 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 ] ; 2006-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Stockage.
English descriptors
- KwdEn :
- Adolescent, Alpha Rhythm, Beta Rhythm, Cerebral Cortex (physiopathology), Coherence, Consanguinity, Dominance, Cerebral (physiology), EEG–EMG coherence, Electroencephalography, Electromyography, Epilepsies, Myoclonic (diagnosis), Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (physiopathology), Epilepsy, Generalized (diagnosis), Epilepsy, Generalized (genetics), Epilepsy, Generalized (physiopathology), Female, Fourier Analysis, Humans, Lipids, Muscle, Skeletal (innervation), Myoclonus, Nervous system diseases, Niemann Pick disease, Niemann-Pick Disease, Type C (diagnosis), Niemann-Pick Disease, Type C (genetics), Niemann-Pick Disease, Type C (physiopathology), PME, Photic Stimulation, Pyramidal Tracts (physiopathology), Reaction Time (physiology), Signal Processing, Computer-Assisted, Storage, action myoclonus, lipid storage.
- MESH :
- diagnosis : Epilepsies, Myoclonic, Epilepsy, Generalized, Niemann-Pick Disease, Type C.
- genetics : Epilepsies, Myoclonic, Epilepsy, Generalized, Niemann-Pick Disease, Type C.
- innervation : Muscle, Skeletal.
- physiology : Dominance, Cerebral, Reaction Time.
- physiopathology : Cerebral Cortex, Epilepsies, Myoclonic, Epilepsy, Generalized, Niemann-Pick Disease, Type C, Pyramidal Tracts.
- Adolescent, Alpha Rhythm, Beta Rhythm, Consanguinity, Electroencephalography, Electromyography, Female, Fourier Analysis, Humans, Photic Stimulation, Signal Processing, Computer-Assisted.
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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.20984
Affiliations:
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Le document en format XML
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<term>Alpha Rhythm</term>
<term>Beta Rhythm</term>
<term>Cerebral Cortex (physiopathology)</term>
<term>Coherence</term>
<term>Consanguinity</term>
<term>Dominance, Cerebral (physiology)</term>
<term>EEG–EMG coherence</term>
<term>Electroencephalography</term>
<term>Electromyography</term>
<term>Epilepsies, Myoclonic (diagnosis)</term>
<term>Epilepsies, Myoclonic (genetics)</term>
<term>Epilepsies, Myoclonic (physiopathology)</term>
<term>Epilepsy, Generalized (diagnosis)</term>
<term>Epilepsy, Generalized (genetics)</term>
<term>Epilepsy, Generalized (physiopathology)</term>
<term>Female</term>
<term>Fourier Analysis</term>
<term>Humans</term>
<term>Lipids</term>
<term>Muscle, Skeletal (innervation)</term>
<term>Myoclonus</term>
<term>Nervous system diseases</term>
<term>Niemann Pick disease</term>
<term>Niemann-Pick Disease, Type C (diagnosis)</term>
<term>Niemann-Pick Disease, Type C (genetics)</term>
<term>Niemann-Pick Disease, Type C (physiopathology)</term>
<term>PME</term>
<term>Photic Stimulation</term>
<term>Pyramidal Tracts (physiopathology)</term>
<term>Reaction Time (physiology)</term>
<term>Signal Processing, Computer-Assisted</term>
<term>Storage</term>
<term>action myoclonus</term>
<term>lipid storage</term>
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<term>Epilepsy, Generalized</term>
<term>Niemann-Pick Disease, Type C</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsies, Myoclonic</term>
<term>Epilepsy, Generalized</term>
<term>Niemann-Pick Disease, Type C</term>
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<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Dominance, Cerebral</term>
<term>Reaction Time</term>
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<term>Epilepsies, Myoclonic</term>
<term>Epilepsy, Generalized</term>
<term>Niemann-Pick Disease, Type C</term>
<term>Pyramidal Tracts</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Alpha Rhythm</term>
<term>Beta Rhythm</term>
<term>Consanguinity</term>
<term>Electroencephalography</term>
<term>Electromyography</term>
<term>Female</term>
<term>Fourier Analysis</term>
<term>Humans</term>
<term>Photic Stimulation</term>
<term>Signal Processing, Computer-Assisted</term>
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<term>Electroencéphalographie</term>
<term>Electromyographie</term>
<term>Lipide</term>
<term>Myoclonie</term>
<term>Sphingolipidose héréditaire Niemann Pick</term>
<term>Stockage</term>
<term>Système nerveux pathologie</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. © 2006 Movement Disorder Society</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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<name sortKey="Avanzini, Giuliano" sort="Avanzini, Giuliano" uniqKey="Avanzini G" first="Giuliano" last="Avanzini">Giuliano Avanzini</name>
<name sortKey="Bugiani, Marianna" sort="Bugiani, Marianna" uniqKey="Bugiani M" first="Marianna" last="Bugiani">Marianna Bugiani</name>
<name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name>
<name sortKey="Dalla Bernardina, Bernardo" sort="Dalla Bernardina, Bernardo" uniqKey="Dalla Bernardina B" first="Bernardo" last="Dalla Bernardina">Bernardo Dalla Bernardina</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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