MovDisordV3, PubMed, Corpus, bibRecord, 002561

Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.

Identifieur interne : 002561 ( PubMed/Corpus ); précédent : 002560; suivant : 002562

Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.

Auteurs : Michael Orth ; Ana Djarmati ; Tobias B Umer ; Susan Winkler ; Anne Grünewald ; Katja Lohmann-Hedrich ; Kemal Kabakci ; Johann Hagenah ; Christine Klein ; Alexander Münchau

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17702041

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Child, DNA Mutational Analysis (methods), Family Health, Female, Genetic Linkage, Humans, Male, Middle Aged, Muscular Dystrophy, Emery-Dreifuss (genetics), Sarcoglycans (genetics), Tourette Syndrome (genetics).
MESH :
- chemical , genetics : Sarcoglycans.
- genetics : Muscular Dystrophy, Emery-Dreifuss, Tourette Syndrome.
- methods : DNA Mutational Analysis.
- Adolescent, Adult, Aged, Child, Family Health, Female, Genetic Linkage, Humans, Male, Middle Aged.

Abstract

The objective of this study was to report clinical details and results of genetic testing for mutations in the epsilon-sarcoglycan (SGCE) gene, the Slit and Trk-like 1 (SLITRK1) gene and for linkage to the DYT15, DYT1, and DRD2 gene loci in a family with autosomal dominant myoclonus-dystonia (M-D) and Gilles de la Tourette syndrome (GTS). Fourteen family members, from three generations, underwent a detailed clinical assessment and donated DNA samples. The SGCE and the SLITRK1 gene were sequenced and investigated by gene dosage analysis in selected family members. Linkage to the SGCE, DYT15, DYT1, DRD2, and SLITRK1 loci was also tested.

DOI: 10.1002/mds.21674
PubMed: 17702041

Links to Exploration step

pubmed:17702041

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.</title>
<author><name sortKey="Orth, Michael" sort="Orth, Michael" uniqKey="Orth M" first="Michael" last="Orth">Michael Orth</name>
<affiliation><nlm:affiliation>Department of Neurology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name>
</author>
<author><name sortKey="B Umer, Tobias" sort="B Umer, Tobias" uniqKey="B Umer T" first="Tobias" last="B Umer">Tobias B Umer</name>
</author>
<author><name sortKey="Winkler, Susan" sort="Winkler, Susan" uniqKey="Winkler S" first="Susan" last="Winkler">Susan Winkler</name>
</author>
<author><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name>
</author>
<author><name sortKey="Lohmann Hedrich, Katja" sort="Lohmann Hedrich, Katja" uniqKey="Lohmann Hedrich K" first="Katja" last="Lohmann-Hedrich">Katja Lohmann-Hedrich</name>
</author>
<author><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name>
</author>
<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</author>
<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.</title>
<author><name sortKey="Orth, Michael" sort="Orth, Michael" uniqKey="Orth M" first="Michael" last="Orth">Michael Orth</name>
<affiliation><nlm:affiliation>Department of Neurology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name>
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<author><name sortKey="B Umer, Tobias" sort="B Umer, Tobias" uniqKey="B Umer T" first="Tobias" last="B Umer">Tobias B Umer</name>
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<author><name sortKey="Winkler, Susan" sort="Winkler, Susan" uniqKey="Winkler S" first="Susan" last="Winkler">Susan Winkler</name>
</author>
<author><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name>
</author>
<author><name sortKey="Lohmann Hedrich, Katja" sort="Lohmann Hedrich, Katja" uniqKey="Lohmann Hedrich K" first="Katja" last="Lohmann-Hedrich">Katja Lohmann-Hedrich</name>
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<author><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name>
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<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</author>
<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
</author>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007" type="published">2007</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>DNA Mutational Analysis (methods)</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Linkage</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Muscular Dystrophy, Emery-Dreifuss (genetics)</term>
<term>Sarcoglycans (genetics)</term>
<term>Tourette Syndrome (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sarcoglycans</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Muscular Dystrophy, Emery-Dreifuss</term>
<term>Tourette Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Linkage</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
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<front><div type="abstract" xml:lang="en">The objective of this study was to report clinical details and results of genetic testing for mutations in the epsilon-sarcoglycan (SGCE) gene, the Slit and Trk-like 1 (SLITRK1) gene and for linkage to the DYT15, DYT1, and DRD2 gene loci in a family with autosomal dominant myoclonus-dystonia (M-D) and Gilles de la Tourette syndrome (GTS). Fourteen family members, from three generations, underwent a detailed clinical assessment and donated DNA samples. The SGCE and the SLITRK1 gene were sequenced and investigated by gene dosage analysis in selected family members. Linkage to the SGCE, DYT15, DYT1, DRD2, and SLITRK1 loci was also tested.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17702041</PMID>
<DateCreated><Year>2007</Year>
<Month>11</Month>
<Day>05</Day>
</DateCreated>
<DateCompleted><Year>2008</Year>
<Month>02</Month>
<Day>01</Day>
</DateCompleted>
<DateRevised><Year>2014</Year>
<Month>07</Month>
<Day>30</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>14</Issue>
<PubDate><Year>2007</Year>
<Month>Oct</Month>
<Day>31</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.</ArticleTitle>
<Pagination><MedlinePgn>2090-6</MedlinePgn>
</Pagination>
<Abstract><AbstractText Label="UNLABELLED">The objective of this study was to report clinical details and results of genetic testing for mutations in the epsilon-sarcoglycan (SGCE) gene, the Slit and Trk-like 1 (SLITRK1) gene and for linkage to the DYT15, DYT1, and DRD2 gene loci in a family with autosomal dominant myoclonus-dystonia (M-D) and Gilles de la Tourette syndrome (GTS). Fourteen family members, from three generations, underwent a detailed clinical assessment and donated DNA samples. The SGCE and the SLITRK1 gene were sequenced and investigated by gene dosage analysis in selected family members. Linkage to the SGCE, DYT15, DYT1, DRD2, and SLITRK1 loci was also tested.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">We included three healthy and 11 affected family members with M-D (n = 3), dystonia alone (n = 2), GTS (n = 1), tics (n = 1) or a combination of these with obsessive compulsive disorder (OCD) (M-D + OCD: n = 2; dystonia+OCD: n = 1; M-D + GTS + OCD: n = 1). There was no linkage to the SGCE, DYT15, DYT1 or DRD2 loci. No changes were found in the SLITRK1 gene. The presence of both M-D and GTS in one family, in which all known M-D loci and a recently discovered GTS locus were excluded, suggests a novel susceptibility gene for both M-D and GTS.</AbstractText>
<CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Orth</LastName>
<ForeName>Michael</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.</Affiliation>
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<Author ValidYN="Y"><LastName>Djarmati</LastName>
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<Author ValidYN="Y"><LastName>Bäumer</LastName>
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<Language>eng</Language>
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<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D008040">Genetic Linkage</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
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<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005879">Tourette Syndrome</DescriptorName>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.

Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.

Source :

English descriptors

Abstract

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