MovDisordV3, Main, Exploration, bibRecord, 002072

Responsiveness to levodopa in epsilon‐sarcoglycan deletions

Identifieur interne : 002072 ( Main/Exploration ); précédent : 002071; suivant : 002073

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 ] ; 2009-02-15.

RBID : ISTEX:B5C64913C29788338EFC4518FE53230B02A7AD8C

English descriptors

KwdEn :
- Adolescent, Antiparkinson Agents (therapeutic use), Child, Dystonia (complications), Dystonia (drug therapy), Dystonia (genetics), Epsilon‐Sarcoglycan, Female, Gene Deletion, Humans, Levodopa, Levodopa (therapeutic use), Male, Myoclonus (complications), Myoclonus (drug therapy), Myoclonus (genetics), Sarcoglycans (genetics), dystonia, myoclonus.
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. © 2008 Movement Disorder Society

Url:

https://api.istex.fr/document/B5C64913C29788338EFC4518FE53230B02A7AD8C/fulltext/pdf

DOI: 10.1002/mds.22375

Affiliations:

Le document en format XML

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<author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
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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. © 2008 Movement Disorder Society</div>
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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 toward previous steps (curation, corpus...)

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Pour manipuler ce document sous Unix (Dilib)

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	Movement Disorders (revue)
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