Responsiveness to levodopa in epsilon‐sarcoglycan deletions
Identifieur interne : 002072 ( Main/Curation ); précédent : 002071; suivant : 002073Responsiveness 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.
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:
DOI: 10.1002/mds.22375
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002005
- to stream Istex, to step Curation: Pour aller vers cette notice dans l'étape Curation :002005
- to stream Istex, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000C74
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001E77
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :001E77
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001B86
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :002487
- to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :002487
- to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002487
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :002933
Links to Exploration step
ISTEX:B5C64913C29788338EFC4518FE53230B02A7AD8CLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><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>
</author>
<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>
</author>
<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 Ullman, Rachel" sort="Saunders Ullman, Rachel" uniqKey="Saunders Ullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:B5C64913C29788338EFC4518FE53230B02A7AD8C</idno>
<date when="2009" year="2009">2009</date>
<idno type="doi">10.1002/mds.22375</idno>
<idno type="url">https://api.istex.fr/document/B5C64913C29788338EFC4518FE53230B02A7AD8C/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002005</idno>
<idno type="wicri:Area/Istex/Curation">002005</idno>
<idno type="wicri:Area/Istex/Checkpoint">000C74</idno>
<idno type="wicri:doubleKey">0885-3185:2009:Luciano M:responsiveness:to:levodopa</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:19133653</idno>
<idno type="wicri:Area/PubMed/Corpus">001E77</idno>
<idno type="wicri:Area/PubMed/Curation">001E77</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001B86</idno>
<idno type="wicri:Area/Ncbi/Merge">002487</idno>
<idno type="wicri:Area/Ncbi/Curation">002487</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002487</idno>
<idno type="wicri:Area/Main/Merge">002933</idno>
<idno type="wicri:Area/Main/Curation">002072</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" 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 wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Albert Einstein College of Medicine, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Science, Mount Sinai School of Medicine, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Albert Einstein College of Medicine, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sims, Katherine" sort="Sims, Katherine" uniqKey="Sims K" first="Katherine" last="Sims">Katherine Sims</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatric Neurology and Neurogenetics, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Albert Einstein College of Medicine, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Albert Einstein College of Medicine, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Liu, Liu" sort="Liu, Liu" uniqKey="Liu L" first="Liu" last="Liu">Liu Liu</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Science, Mount Sinai School of Medicine, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Albert Einstein College of Medicine, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Saunders Ullman, Rachel" sort="Saunders Ullman, Rachel" uniqKey="Saunders Ullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Albert Einstein College of Medicine, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2009-02-15">2009-02-15</date>
<biblScope unit="vol">24</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="425">425</biblScope>
<biblScope unit="page" to="428">428</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">B5C64913C29788338EFC4518FE53230B02A7AD8C</idno>
<idno type="DOI">10.1002/mds.22375</idno>
<idno type="ArticleID">MDS22375</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<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>Epsilon‐Sarcoglycan</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Humans</term>
<term>Levodopa</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>
<term>dystonia</term>
<term>myoclonus</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sarcoglycans</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term>
<term>Myoclonus</term>
</keywords>
<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>
<term>Gene Deletion</term>
<term>Humans</term>
<term>Male</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<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>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002072 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 002072 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Curation |type= RBID |clé= ISTEX:B5C64913C29788338EFC4518FE53230B02A7AD8C |texte= Responsiveness to levodopa in epsilon‐sarcoglycan deletions }}
This area was generated with Dilib version V0.6.23. |