MovDisordV3, France, Analysis, bibRecord, 000297

Cortical excitability in DYT‐11 positive myoclonus dystonia

Identifieur interne : 000297 ( France/Analysis ); précédent : 000296; suivant : 000298

Cortical excitability in DYT‐11 positive myoclonus dystonia

Auteurs : Sabine Meunier [France] ; George Lourenco [France] ; Emmanuel Roze [France] ; Emmanuelle Apartis [France] ; Jean-Marc Trocello [France] ; Marie Vidailhet [France]

Source :

Movement Disorders [ 0885-3185 ] ; 2008-04-15.

RBID : ISTEX:FAB5C6FD7D95FC6D0A805FE7B820711E0B361BFF

English descriptors

KwdEn :
- Adult, Aged, Cerebral Cortex (physiopathology), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Dystonic Disorders (physiopathology), Electrophysiology, Evoked Potentials, Motor, Female, Genes, Dominant, Heterozygote, Humans, Male, Middle Aged, Neural Inhibition, Reaction Time, Reference Values, Sarcoglycans (genetics), Synaptic Transmission, Transcranial Magnetic Stimulation, dystonia, myoclonus, pathophysiology, transcranial magnetic stimulation.
MESH :
- chemical , genetics : Sarcoglycans.
- diagnosis : Dystonic Disorders.
- genetics : Dystonic Disorders.
- physiopathology : Cerebral Cortex, Dystonic Disorders.
- Adult, Aged, Electrophysiology, Evoked Potentials, Motor, Female, Genes, Dominant, Heterozygote, Humans, Male, Middle Aged, Neural Inhibition, Reaction Time, Reference Values, Synaptic Transmission, Transcranial Magnetic Stimulation.

Abstract

Myoclonus‐dystonia (M‐D) is an autosomal dominant movement disorder caused by mutations in the ε‐sarcoglycan gene (DYT11). We explore pathophysiological characteristics of M‐D with the hypothesis that they may be different from those of sporadic or genetic dystonia. We compared five carriers of the DYT11 gene mutation and 10 healthy controls. Using transcranial magnetic stimulation, we measured parameters assessing cortical membrane excitability (active motor threshold, aMT) and synaptic activity (short interval, sICI) and afferent (AI) intracortical inhibitions and their interaction. aMT was significantly higher in the DYT11 gene carriers than in normal subjects. The others parameters (sICI, AI and their interaction) were not different between the two groups. In DYT11 gene carriers cortical membrane excitability was impaired while parameters assessing cortical synaptic activity were normal. Opposite results have been obtained in focal sporadic and generalized DYT1 dystonias. © 2008 Movement Disorder Society

Url:

https://api.istex.fr/document/FAB5C6FD7D95FC6D0A805FE7B820711E0B361BFF/fulltext/pdf

DOI: 10.1002/mds.21954

Affiliations:

Links to Exploration step

ISTEX:FAB5C6FD7D95FC6D0A805FE7B820711E0B361BFF

Le document en format XML

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<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
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<author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name>
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<term>Dystonic Disorders (genetics)</term>
<term>Dystonic Disorders (physiopathology)</term>
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<front><div type="abstract" xml:lang="en">Myoclonus‐dystonia (M‐D) is an autosomal dominant movement disorder caused by mutations in the ε‐sarcoglycan gene (DYT11). We explore pathophysiological characteristics of M‐D with the hypothesis that they may be different from those of sporadic or genetic dystonia. We compared five carriers of the DYT11 gene mutation and 10 healthy controls. Using transcranial magnetic stimulation, we measured parameters assessing cortical membrane excitability (active motor threshold, aMT) and synaptic activity (short interval, sICI) and afferent (AI) intracortical inhibitions and their interaction. aMT was significantly higher in the DYT11 gene carriers than in normal subjects. The others parameters (sICI, AI and their interaction) were not different between the two groups. In DYT11 gene carriers cortical membrane excitability was impaired while parameters assessing cortical synaptic activity were normal. Opposite results have been obtained in focal sporadic and generalized DYT1 dystonias. © 2008 Movement Disorder Society</div>
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<name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
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Movement Disorders (revue)

Cortical excitability in DYT‐11 positive myoclonus dystonia

Cortical excitability in DYT‐11 positive myoclonus dystonia

Source :

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)

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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.