MovDisordV3, Main, Merge, bibRecord, 002E14

Responsiveness to Levodopa in Epsilon-Sarcoglycan Deletions

Identifieur interne : 002E14 ( Main/Merge ); précédent : 002E13; suivant : 002E15

Responsiveness to Levodopa in Epsilon-Sarcoglycan Deletions

Auteurs : Marta San Luciano [États-Unis] ; Laurie Ozelius [États-Unis] ; Katherine Sims [États-Unis] ; Deborah Raymond [États-Unis] ; LIU LIU [États-Unis] ; Rachel Saunders-Pullman [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0136800

Descripteurs français

Pascal (Inist)
- Délétion, Myoclonie, Dystonie, Pathologie du système nerveux, Lévodopa.

English descriptors

KwdEn :
- Deletion, Dystonia, Levodopa, Myoclonus, Nervous system diseases.

Abstract

Myoclonus-dystonia (M-D) is characterized by early-onset myoclonus and dystonia, and is often due to mutations in the epsilon-sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M-D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M-D due to SCGE deletions who displayed a robust and sustained response to levodopa (L-dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L-dopa may be considered in patients with myoclonus-dystonia.

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Pascal:09-0136800

Le document en format XML

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<author><name sortKey="San Luciano, Marta" sort="San Luciano, Marta" uniqKey="San Luciano M" first="Marta" last="San Luciano">Marta San Luciano</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Responsiveness to Levodopa in Epsilon-Sarcoglycan Deletions</title>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Deletion</term>
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<term>Nervous system diseases</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Délétion</term>
<term>Myoclonie</term>
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<front><div type="abstract" xml:lang="en">Myoclonus-dystonia (M-D) is characterized by early-onset myoclonus and dystonia, and is often due to mutations in the epsilon-sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M-D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M-D due to SCGE deletions who displayed a robust and sustained response to levodopa (L-dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L-dopa may be considered in patients with myoclonus-dystonia.</div>
</front>
</TEI>
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<tree><country name="États-Unis"><region name="État de New York"><name sortKey="San Luciano, Marta" sort="San Luciano, Marta" uniqKey="San Luciano M" first="Marta" last="San Luciano">Marta San Luciano</name>
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<name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name>
<name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
<name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
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</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Responsiveness to Levodopa in Epsilon-Sarcoglycan Deletions

Responsiveness to Levodopa in Epsilon-Sarcoglycan Deletions

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