Cortical excitability in DYT-11 positive myoclonus dystonia.
Identifieur interne : 002364 ( PubMed/Checkpoint ); précédent : 002363; suivant : 002365Cortical excitability in DYT-11 positive myoclonus dystonia.
Auteurs : Emmanuel Roze ; Emmanuelle Apartis ; Jean-Marc TrocelloSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
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.
- 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 epsilon-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.
DOI: 10.1002/mds.21954
PubMed: 18265016
Affiliations:
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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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18265016</PMID><DateCreated><Year>2008</Year><Month>05</Month><Day>01</Day></DateCreated><DateCompleted><Year>2008</Year><Month>05</Month><Day>30</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>5</Issue><PubDate><Year>2008</Year><Month>Apr</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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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. 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