MovDisordV3, PubMed, Corpus, bibRecord, 001E77

Responsiveness to levodopa in epsilon-sarcoglycan deletions.

Identifieur interne : 001E77 ( PubMed/Corpus ); précédent : 001E76; suivant : 001E78

Responsiveness to levodopa in epsilon-sarcoglycan deletions.

Auteurs : Marta San Luciano ; Laurie Ozelius ; Katherine Sims ; Deborah Raymond ; Liu Liu ; Rachel Saunders-Pullman

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.

RBID : pubmed:19133653

English descriptors

KwdEn :
- Adolescent, Antiparkinson Agents (therapeutic use), Child, Dystonia (complications), Dystonia (drug therapy), Dystonia (genetics), Female, Gene Deletion, Humans, Levodopa (therapeutic use), Male, Myoclonus (complications), Myoclonus (drug therapy), Myoclonus (genetics), Sarcoglycans (genetics).
MESH :
- chemical , genetics : Sarcoglycans.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- complications : Dystonia, Myoclonus.
- drug therapy : Dystonia, Myoclonus.
- genetics : Dystonia, Myoclonus.
- Adolescent, Child, Female, Gene Deletion, Humans, Male.

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.

DOI: 10.1002/mds.22375
PubMed: 19133653

Links to Exploration step

pubmed:19133653

Le document en format XML

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<author><name sortKey="Luciano, Marta San" sort="Luciano, Marta San" uniqKey="Luciano M" first="Marta San" last="Luciano">Marta San Luciano</name>
<affiliation><nlm:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name>
</author>
<author><name sortKey="Sims, Katherine" sort="Sims, Katherine" uniqKey="Sims K" first="Katherine" last="Sims">Katherine Sims</name>
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<author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
</author>
<author><name sortKey="Liu, Liu" sort="Liu, Liu" uniqKey="Liu L" first="Liu" last="Liu">Liu Liu</name>
</author>
<author><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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<sourceDesc><biblStruct><analytic><title xml:lang="en">Responsiveness to levodopa in epsilon-sarcoglycan deletions.</title>
<author><name sortKey="Luciano, Marta San" sort="Luciano, Marta San" uniqKey="Luciano M" first="Marta San" last="Luciano">Marta San Luciano</name>
<affiliation><nlm:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA.</nlm:affiliation>
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<author><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name>
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<author><name sortKey="Liu, Liu" sort="Liu, Liu" uniqKey="Liu L" first="Liu" last="Liu">Liu Liu</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Antiparkinson Agents (therapeutic use)</term>
<term>Child</term>
<term>Dystonia (complications)</term>
<term>Dystonia (drug therapy)</term>
<term>Dystonia (genetics)</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Myoclonus (complications)</term>
<term>Myoclonus (drug therapy)</term>
<term>Myoclonus (genetics)</term>
<term>Sarcoglycans (genetics)</term>
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<term>Myoclonus</term>
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<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>Female</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>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation>
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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 :

English descriptors

Abstract

Links to Exploration step

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