Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.
Identifieur interne : 002366 ( Ncbi/Merge ); précédent : 002365; suivant : 002367Effect 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. ChungSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
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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pubmed:18823049Le document en format XML
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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. 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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></placeName></affiliation></author><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. 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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></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18823049</PMID><DateCreated><Year>2008</Year><Month>12</Month><Day>01</Day></DateCreated><DateCompleted><Year>2009</Year><Month>04</Month><Day>08</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>15</Issue><PubDate><Year>2008</Year><Month>Nov</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.</ArticleTitle><Pagination><MedlinePgn>2251-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22337</ELocationID><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Mi J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Department of Neurology, Center for Parkinsonism and Other Movement Disorders, University of Ulsan College of Medicine, Seoul, South Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jeon</LastName><ForeName>Sang R</ForeName><Initials>SR</Initials></Author><Author ValidYN="Y"><LastName>Yoo</LastName><ForeName>Han-Wook</ForeName><Initials>HW</Initials></Author><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Gu-Hwan</ForeName><Initials>GH</Initials></Author><Author ValidYN="Y"><LastName>Lee</LastName><ForeName>Myoung C</ForeName><Initials>MC</Initials></Author><Author ValidYN="Y"><LastName>Chung</LastName><ForeName>Sun J</ForeName><Initials>SJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016430">Clinical Trial</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018832">Molecular Chaperones</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C108175">TOR1A protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000601">surgery</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006225">Hand</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008137">Longitudinal Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018832">Molecular Chaperones</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011612">Psychosurgery</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013788">Thalamus</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000601">surgery</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>10</Month><Day>1</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>4</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>10</Month><Day>1</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22337</ArticleId><ArticleId IdType="pubmed">18823049</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Corée du Sud</li></country><settlement><li>Séoul</li></settlement></list><tree><noCountry><name sortKey="Chung, Sun J" sort="Chung, Sun J" uniqKey="Chung S" first="Sun J" last="Chung">Sun J. Chung</name><name sortKey="Jeon, Sang R" sort="Jeon, Sang R" uniqKey="Jeon S" first="Sang R" last="Jeon">Sang R. Jeon</name><name sortKey="Kim, Gu Hwan" sort="Kim, Gu Hwan" uniqKey="Kim G" first="Gu-Hwan" last="Kim">Gu-Hwan Kim</name><name sortKey="Lee, Myoung C" sort="Lee, Myoung C" uniqKey="Lee M" first="Myoung C" last="Lee">Myoung C. Lee</name><name sortKey="Yoo, Han Wook" sort="Yoo, Han Wook" uniqKey="Yoo H" first="Han-Wook" last="Yoo">Han-Wook Yoo</name></noCountry><country name="Corée du Sud"><noRegion><name sortKey="Kim, Mi J" sort="Kim, Mi J" uniqKey="Kim M" first="Mi J" last="Kim">Mi J. Kim</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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