Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation
Identifieur interne : 001A18 ( Istex/Corpus ); précédent : 001A17; suivant : 001A19Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation
Auteurs : Mi J. Kim ; Sang R. Jeon ; Han-Wook Yoo ; Gu-Hwan Kim ; Myoung C. Lee ; Sun J. ChungSource :
- Movement Disorders [ 0885-3185 ] ; 2008-11-15.
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- KwdEn :
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. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.22337
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<caption>Supporting Information Figure 1. The results of mutation analysis of DYT1 gene. Family members, II:5, III:1, and III:4, revealed the presence of the GAG deletion. (A) The electrogram of heteroduplex assay. Abnormal shift bands in mutants are indicated by arrows. Bold letter indicated the affected. (B) Sequence analysis of the patient III:4. The GAG deletion site is indicated with bold underline and arrow. Normal control is shown in upper panel. Mutant allele, which mixed sequence with normal allele, is shown in lower panel for a patient.</caption>
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<p>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. © 2008 Movement Disorder Society</p>
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<!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation</title>
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<titleInfo type="abbreviated" lang="en"><title>Effect of Thalamotomy on Focal Hand Dystonia</title>
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<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation</title>
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<name type="personal"><namePart type="given">Mi J.</namePart>
<namePart type="family">Kim</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Center for Parkinsonism and Other Movement Disorders, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation>
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<name type="personal"><namePart type="given">Sang R.</namePart>
<namePart type="family">Jeon</namePart>
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<affiliation>Center for Parkinsonism and Other Movement Disorders, Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation>
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<name type="personal"><namePart type="given">Han‐Wook</namePart>
<namePart type="family">Yoo</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Genome Research Center for Birth Defects & Genetic Disorders, Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation>
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<name type="personal"><namePart type="given">Gu‐Hwan</namePart>
<namePart type="family">Kim</namePart>
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<affiliation>Genome Research Center for Birth Defects & Genetic Disorders, Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation>
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<name type="personal"><namePart type="given">Myoung C.</namePart>
<namePart type="family">Lee</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Center for Parkinsonism and Other Movement Disorders, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation>
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<name type="personal"><namePart type="given">Sun J.</namePart>
<namePart type="family">Chung</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Center for Parkinsonism and Other Movement Disorders, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation>
<description>Correspondence: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, 388‐1, Poongnap‐dong, Songpa‐gu, Seoul 138‐736, South Korea</description>
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<dateIssued encoding="w3cdtf">2008-11-15</dateIssued>
<dateCaptured encoding="w3cdtf">2008-04-15</dateCaptured>
<dateValid encoding="w3cdtf">2008-08-30</dateValid>
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<abstract 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. © 2008 Movement Disorder Society</abstract>
<note type="content">*Potential conflict of interest: None reported.</note>
<note type="funding">Korean Ministry of Health and Welfare - No. 01‐PJ10‐PG6‐01GN15‐0001; </note>
<subject lang="en"><genre>Keywords</genre>
<topic>dystonia</topic>
<topic>thalamotomy</topic>
<topic>DYT1</topic>
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<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
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<titleInfo type="abbreviated"><title>Mov. Disord.</title>
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<note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Information Figure 1. The results of mutation analysis of DYT1 gene. Family members, II:5, III:1, and III:4, revealed the presence of the GAG deletion. (A) The electrogram of heteroduplex assay. Abnormal shift bands in mutants are indicated by arrows. Bold letter indicated the affected. (B) Sequence analysis of the patient III:4. The GAG deletion site is indicated with bold underline and arrow. Normal control is shown in upper panel. Mutant allele, which mixed sequence with normal allele, is shown in lower panel for a patient. - </note>
<subject><genre>article category</genre>
<topic>Brief Report</topic>
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<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part><date>2008</date>
<detail type="volume"><caption>vol.</caption>
<number>23</number>
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<detail type="issue"><caption>no.</caption>
<number>15</number>
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<identifier type="DOI">10.1002/mds.22337</identifier>
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<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 Movement Disorder Society</accessCondition>
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