Responsiveness to Levodopa in Epsilon-Sarcoglycan Deletions
Identifieur interne : 002E14 ( Main/Merge ); précédent : 002E13; suivant : 002E15Responsiveness 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.
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- Pascal (Inist)
English descriptors
- KwdEn :
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:09-0136800Le document en format XML
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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>
<term>Dystonia</term>
<term>Levodopa</term>
<term>Myoclonus</term>
<term>Nervous system diseases</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Délétion</term>
<term>Myoclonie</term>
<term>Dystonie</term>
<term>Pathologie du système nerveux</term>
<term>Lévodopa</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>
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<region><li>Massachusetts</li>
<li>État de New York</li>
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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="Liu Liu" sort="Liu Liu" uniqKey="Liu Liu" last="Liu Liu">LIU LIU</name>
<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>
<name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
<name sortKey="Sims, Katherine" sort="Sims, Katherine" uniqKey="Sims K" first="Katherine" last="Sims">Katherine Sims</name>
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