MovDisordV3, Ncbi, Curation, bibRecord, 002366

Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.

Identifieur interne : 002366 ( Ncbi/Curation ); précédent : 002365; suivant : 002367

Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.

Auteurs : Mi J. Kim [Corée du Sud] ; Sang R. Jeon ; Han-Wook Yoo ; Gu-Hwan Kim ; Myoung C. Lee ; Sun J. Chung

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.

RBID : pubmed:18823049

English descriptors

KwdEn :
- Adolescent, Adult, Aged, DNA Mutational Analysis (methods), Dystonic Disorders (genetics), Dystonic Disorders (pathology), Dystonic Disorders (surgery), Family Health, Hand (physiopathology), Humans, Longitudinal Studies, Male, Middle Aged, Molecular Chaperones (genetics), Mutation (genetics), Psychosurgery (methods), Thalamus (surgery).
MESH :
- chemical , genetics : Molecular Chaperones.
- genetics : Dystonic Disorders, Mutation.
- methods : DNA Mutational Analysis, Psychosurgery.
- pathology : Dystonic Disorders.
- physiopathology : Hand.
- surgery : Dystonic Disorders, Thalamus.
- Adolescent, Adult, Aged, Family Health, Humans, Longitudinal Studies, Male, Middle Aged.

Abstract

We report the clinical and molecular features of a family with focal hand dystonia caused by DYT1 mutation. Four members of a family who underwent thalamotomy showed a marked and sustained therapeutic benefit that lasted for up to 12 years without recurrence of dystonia or any significant surgical complication. The hand dystonia caused by DYT1 mutation may be successfully managed by thalamotomy.

DOI: 10.1002/mds.22337
PubMed: 18823049

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Le document en format XML

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<author><name sortKey="Kim, Mi J" sort="Kim, Mi J" uniqKey="Kim M" first="Mi J" last="Kim">Mi J. Kim</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Center for Parkinsonism and Other Movement Disorders, University of Ulsan College of Medicine, Seoul, South Korea.</nlm:affiliation>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Neurology, Center for Parkinsonism and Other Movement Disorders, University of Ulsan College of Medicine, Seoul</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
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<author><name sortKey="Jeon, Sang R" sort="Jeon, Sang R" uniqKey="Jeon S" first="Sang R" last="Jeon">Sang R. Jeon</name>
</author>
<author><name sortKey="Yoo, Han Wook" sort="Yoo, Han Wook" uniqKey="Yoo H" first="Han-Wook" last="Yoo">Han-Wook Yoo</name>
</author>
<author><name sortKey="Kim, Gu Hwan" sort="Kim, Gu Hwan" uniqKey="Kim G" first="Gu-Hwan" last="Kim">Gu-Hwan Kim</name>
</author>
<author><name sortKey="Lee, Myoung C" sort="Lee, Myoung C" uniqKey="Lee M" first="Myoung C" last="Lee">Myoung C. Lee</name>
</author>
<author><name sortKey="Chung, Sun J" sort="Chung, Sun J" uniqKey="Chung S" first="Sun J" last="Chung">Sun J. Chung</name>
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<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2008">2008</date>
<idno type="doi">10.1002/mds.22337</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.</title>
<author><name sortKey="Kim, Mi J" sort="Kim, Mi J" uniqKey="Kim M" first="Mi J" last="Kim">Mi J. Kim</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Center for Parkinsonism and Other Movement Disorders, University of Ulsan College of Medicine, Seoul, South Korea.</nlm:affiliation>
<country xml:lang="fr">Corée du Sud</country>
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<placeName><settlement type="city">Séoul</settlement>
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<author><name sortKey="Jeon, Sang R" sort="Jeon, Sang R" uniqKey="Jeon S" first="Sang R" last="Jeon">Sang R. Jeon</name>
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<author><name sortKey="Yoo, Han Wook" sort="Yoo, Han Wook" uniqKey="Yoo H" first="Han-Wook" last="Yoo">Han-Wook Yoo</name>
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<author><name sortKey="Kim, Gu Hwan" sort="Kim, Gu Hwan" uniqKey="Kim G" first="Gu-Hwan" last="Kim">Gu-Hwan Kim</name>
</author>
<author><name sortKey="Lee, Myoung C" sort="Lee, Myoung C" uniqKey="Lee M" first="Myoung C" last="Lee">Myoung C. Lee</name>
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<author><name sortKey="Chung, Sun J" sort="Chung, Sun J" uniqKey="Chung S" first="Sun J" last="Chung">Sun J. Chung</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis (methods)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Dystonic Disorders (pathology)</term>
<term>Dystonic Disorders (surgery)</term>
<term>Family Health</term>
<term>Hand (physiopathology)</term>
<term>Humans</term>
<term>Longitudinal Studies</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Chaperones (genetics)</term>
<term>Mutation (genetics)</term>
<term>Psychosurgery (methods)</term>
<term>Thalamus (surgery)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Psychosurgery</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Dystonic Disorders</term>
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<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Hand</term>
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<keywords scheme="MESH" qualifier="surgery" xml:lang="en"><term>Dystonic Disorders</term>
<term>Thalamus</term>
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<term>Adult</term>
<term>Aged</term>
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<front><div type="abstract" xml:lang="en">We report the clinical and molecular features of a family with focal hand dystonia caused by DYT1 mutation. Four members of a family who underwent thalamotomy showed a marked and sustained therapeutic benefit that lasted for up to 12 years without recurrence of dystonia or any significant surgical complication. The hand dystonia caused by DYT1 mutation may be successfully managed by thalamotomy.</div>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.

Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.

Source :

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

Pour générer des pages wiki