Cervical dystonia in monozygotic twins: case report and review of the literature.
Identifieur interne : 003D02 ( PubMed/Corpus ); précédent : 003D01; suivant : 003D03Cervical dystonia in monozygotic twins: case report and review of the literature.
Auteurs : S. Wunderlich ; K. Reiners ; T. Gasser ; M. NaumannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2001.
English descriptors
- KwdEn :
- MESH :
- genetics : Diseases in Twins, Dystonic Disorders, Torticollis, Twins, Monozygotic.
- Adult, Humans, Male, Pedigree.
Abstract
We report on monozygotic male twins of German origin with early onset cervical dystonia. No other family members were affected. Although identical in age of onset and clinical course, there were phenotypic variations. While the second-born, more affected twin suffered from a symmetric retrocollis, the twin brother mainly presented with a spasmodic torticollis to the left. Dystonia remained focal in both siblings. A DYT1 gene deletion was excluded. Including our patients, hitherto only four twin pairs with idiopathic dystonia have been reported. Although dystonia in twins can be remarkably uniform in some cases, major differences in terms of disease progression, remissions, and disability may be found. These observations underline the role of inheritance in the pathogenesis of idiopathic dystonia but also indicate that some other factors contribute to the clinical presentation of dystonia.
PubMed: 11481697
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Naumann</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2001">2001</date><idno type="RBID">pubmed:11481697</idno><idno type="pmid">11481697</idno><idno type="wicri:Area/PubMed/Corpus">003D02</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Cervical dystonia in monozygotic twins: case report and review of the literature.</title><author><name sortKey="Wunderlich, S" sort="Wunderlich, S" uniqKey="Wunderlich S" first="S" last="Wunderlich">S. Wunderlich</name><affiliation><nlm:affiliation>Department of Neurology, Julius-Maximilian-Universität, Würzburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Reiners, K" sort="Reiners, K" uniqKey="Reiners K" first="K" last="Reiners">K. Reiners</name></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name></author><author><name sortKey="Naumann, M" sort="Naumann, M" uniqKey="Naumann M" first="M" last="Naumann">M. Naumann</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Diseases in Twins (genetics)</term><term>Dystonic Disorders (genetics)</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Torticollis (genetics)</term><term>Twins, Monozygotic (genetics)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Diseases in Twins</term><term>Dystonic Disorders</term><term>Torticollis</term><term>Twins, Monozygotic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Male</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on monozygotic male twins of German origin with early onset cervical dystonia. No other family members were affected. Although identical in age of onset and clinical course, there were phenotypic variations. While the second-born, more affected twin suffered from a symmetric retrocollis, the twin brother mainly presented with a spasmodic torticollis to the left. Dystonia remained focal in both siblings. A DYT1 gene deletion was excluded. Including our patients, hitherto only four twin pairs with idiopathic dystonia have been reported. Although dystonia in twins can be remarkably uniform in some cases, major differences in terms of disease progression, remissions, and disability may be found. These observations underline the role of inheritance in the pathogenesis of idiopathic dystonia but also indicate that some other factors contribute to the clinical presentation of dystonia.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11481697</PMID><DateCreated><Year>2001</Year><Month>08</Month><Day>01</Day></DateCreated><DateCompleted><Year>2001</Year><Month>10</Month><Day>18</Day></DateCompleted><DateRevised><Year>2005</Year><Month>11</Month><Day>16</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>16</Volume><Issue>4</Issue><PubDate><Year>2001</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Cervical dystonia in monozygotic twins: case report and review of the literature.</ArticleTitle><Pagination><MedlinePgn>714-8</MedlinePgn></Pagination><Abstract><AbstractText>We report on monozygotic male twins of German origin with early onset cervical dystonia. No other family members were affected. Although identical in age of onset and clinical course, there were phenotypic variations. While the second-born, more affected twin suffered from a symmetric retrocollis, the twin brother mainly presented with a spasmodic torticollis to the left. Dystonia remained focal in both siblings. A DYT1 gene deletion was excluded. Including our patients, hitherto only four twin pairs with idiopathic dystonia have been reported. Although dystonia in twins can be remarkably uniform in some cases, major differences in terms of disease progression, remissions, and disability may be found. These observations underline the role of inheritance in the pathogenesis of idiopathic dystonia but also indicate that some other factors contribute to the clinical presentation of dystonia.</AbstractText><CopyrightInformation>Copyright 2001 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wunderlich</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology, Julius-Maximilian-Universität, Würzburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reiners</LastName><ForeName>K</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Gasser</LastName><ForeName>T</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Naumann</LastName><ForeName>M</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Mov Disord. 2002 Jul;17(4):846-7</RefSource><PMID Version="1">12210893</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004200">Diseases in Twins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014103">Torticollis</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014430">Twins, Monozygotic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList><NumberOfReferences>20</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year><Month>8</Month><Day>2</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2001</Year><Month>10</Month><Day>19</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2001</Year><Month>8</Month><Day>2</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">11481697</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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