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Pallidal activity in myoclonus dystonia correlates with motor signs.

Identifieur interne : 001B35 ( Ncbi/Merge ); précédent : 001B34; suivant : 001B36

Pallidal activity in myoclonus dystonia correlates with motor signs.

Auteurs : Marie-Laure Welter [France] ; David Grabli [France] ; Carine Karachi [France] ; Nicolas Jodoin [France] ; Sara Fernandez-Vidal [France] ; Yohann Brun [France] ; Soledad Navarro [France] ; Alister Rogers [France] ; Philippe Cornu [France] ; Bernard Pidoux [France] ; Jérôme Yelnik [France] ; Emmanuel Roze [France] ; Eric Bardinet [France] ; Marie Vidailhet [France]

Source :

RBID : pubmed:25880339

English descriptors

Abstract

Myoclonus-dystonia related to epsilon-sarcoglycan gene mutations is characterized by myoclonic jerks and mild to moderate dystonia. The role of basal ganglia dysfunction in the pathogenesis is unknown.

DOI: 10.1002/mds.26244
PubMed: 25880339

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pubmed:25880339

Le document en format XML

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<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
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<title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Globus Pallidus (physiopathology)</term>
<term>Humans</term>
<term>Neurons (physiology)</term>
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<term>Neurons</term>
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<term>Dystonic Disorders</term>
<term>Globus Pallidus</term>
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<div type="abstract" xml:lang="en">Myoclonus-dystonia related to epsilon-sarcoglycan gene mutations is characterized by myoclonic jerks and mild to moderate dystonia. The role of basal ganglia dysfunction in the pathogenesis is unknown.</div>
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<Day>04</Day>
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<Day>23</Day>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Pallidal activity in myoclonus dystonia correlates with motor signs.</ArticleTitle>
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<AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Myoclonus-dystonia related to epsilon-sarcoglycan gene mutations is characterized by myoclonic jerks and mild to moderate dystonia. The role of basal ganglia dysfunction in the pathogenesis is unknown.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Pallidal neuronal activity was recorded in six myoclonus-dystonia and six primary generalized dystonia patients operated on for internal globus pallidus deep brain stimulation.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">In myoclonus-dystonia patients compared with primary-dystonia patients, internal pallidum neurons showed higher burst frequency, lower mean burst, and pause durations. External pallidum neurons showed higher mean pause frequency. Oscillatory activity was present in 33% and 35% of internal pallidum neurons in myoclonus-dystonia and primary-dystonia patients, respectively, predominantly in the theta frequency band (3-8 Hz). In myoclonus-dystonia patients with more severe myoclonus, internal pallidum neurons exhibited a higher bursting activity with high intraburst frequency and lower oscillatory activity frequency.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Myoclonus-dystonia appears to be related to specific changes in internal pallidum activity, leading to disruption in striato-pallido-thalamo-cortical circuits. © 2015 International Parkinson and Movement Disorder Society.</AbstractText>
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<LastName>Welter</LastName>
<ForeName>Marie-Laure</ForeName>
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<Affiliation>Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épiniere (CRICM), UMR-S975, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Inserm, U1127, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>CNRS, UMR 7225, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Centre d'Investigation Clinique Pitié Neurosciences (Inserm CIC-1422), Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Département de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.</Affiliation>
</AffiliationInfo>
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<LastName>Grabli</LastName>
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<Affiliation>Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épiniere (CRICM), UMR-S975, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Inserm, U1127, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>CNRS, UMR 7225, Paris, France.</Affiliation>
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<AffiliationInfo>
<Affiliation>Centre d'Investigation Clinique Pitié Neurosciences (Inserm CIC-1422), Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.</Affiliation>
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<AffiliationInfo>
<Affiliation>Département de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.</Affiliation>
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</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Service de Neurologie, Centre hospitalier de l'Université de Montréal, Montréal, Québec, Canada.</Affiliation>
</AffiliationInfo>
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