Autosomal Dominant Myoclonus-Dystonia and Tourette Syndrome in a Family Without Linkage to the SGCE Gene
Identifieur interne : 001775 ( PascalFrancis/Checkpoint ); précédent : 001774; suivant : 001776Autosomal Dominant Myoclonus-Dystonia and Tourette Syndrome in a Family Without Linkage to the SGCE Gene
Auteurs : Michael Orth [Allemagne] ; Ana Djarmati [Allemagne] ; Tobias B Umer [Allemagne] ; Susan Winkler [Allemagne] ; Anne Grünewald [Allemagne] ; Katja Lohmann-Hedrich [Allemagne] ; Kemal Kabakci [Allemagne] ; Johann Hagenah [Allemagne] ; Christine Klein [Allemagne] ; Alexander Münchau [Allemagne]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
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Abstract
The objective of this study was to report clinical details and results of genetic testing for mutations in the s-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. 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.
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aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Lohmann Hedrich, Katja" sort="Lohmann Hedrich, Katja" uniqKey="Lohmann Hedrich K" first="Katja" last="Lohmann-Hedrich">Katja Lohmann-Hedrich</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 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aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Medical Centre Hamburg-Eppendorf</s1><s2>Hamburg</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0069701</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 08-0069701 INIST</idno><idno type="RBID">Pascal:08-0069701</idno><idno type="wicri:Area/PascalFrancis/Corpus">001474</idno><idno type="wicri:Area/PascalFrancis/Curation">001845</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001775</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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 wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Medical Centre Hamburg-Eppendorf</s1><s2>Hamburg</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="B Umer, Tobias" sort="B Umer, Tobias" uniqKey="B Umer T" first="Tobias" last="B Umer">Tobias B Umer</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Medical Centre Hamburg-Eppendorf</s1><s2>Hamburg</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Winkler, Susan" sort="Winkler, Susan" uniqKey="Winkler S" first="Susan" last="Winkler">Susan Winkler</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Lohmann Hedrich, Katja" sort="Lohmann Hedrich, Katja" uniqKey="Lohmann Hedrich K" first="Katja" last="Lohmann-Hedrich">Katja Lohmann-Hedrich</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Medical Centre Hamburg-Eppendorf</s1><s2>Hamburg</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term><term>Genetic linkage</term><term>Gilles de la Tourette syndrome</term><term>Myoclonus</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du système nerveux</term><term>Myoclonie</term><term>Dystonie</term><term>Syndrome de Gilles de la Tourette</term><term>Liaison génétique</term></keywords></textClass></profileDesc></teiHeader><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 s-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. 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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>22</s2></fA05><fA06><s2>14</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Autosomal Dominant Myoclonus-Dystonia and Tourette Syndrome in a Family Without Linkage to the SGCE Gene</s1></fA08><fA11 i1="01" i2="1"><s1>ORTH (Michael)</s1></fA11><fA11 i1="02" i2="1"><s1>DJARMATI (Ana)</s1></fA11><fA11 i1="03" i2="1"><s1>BÄUMER (Tobias)</s1></fA11><fA11 i1="04" i2="1"><s1>WINKLER (Susan)</s1></fA11><fA11 i1="05" i2="1"><s1>GRÜNEWALD (Anne)</s1></fA11><fA11 i1="06" i2="1"><s1>LOHMANN-HEDRICH (Katja)</s1></fA11><fA11 i1="07" i2="1"><s1>KABAKCI (Kemal)</s1></fA11><fA11 i1="08" i2="1"><s1>HAGENAH (Johann)</s1></fA11><fA11 i1="09" i2="1"><s1>KLEIN (Christine)</s1></fA11><fA11 i1="10" i2="1"><s1>MÜNCHAU (Alexander)</s1></fA11><fA14 i1="01"><s1>Department of Neurology, University Medical Centre Hamburg-Eppendorf</s1><s2>Hamburg</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></fA14><fA20><s1>2090-2096</s1></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000174393170120</s5></fA43><fA44><s0>0000</s0><s1>© 2008 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>35 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>08-0069701</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>The objective of this study was to report clinical details and results of genetic testing for mutations in the s-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. 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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17H</s0></fC02><fC02 i1="03" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Myoclonie</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Myoclonus</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Mioclonia</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Dystonie</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Dystonia</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Distonía</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Syndrome de Gilles de la Tourette</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Gilles de la Tourette syndrome</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Gilles de la Tourette síndrome</s0><s5>04</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Liaison génétique</s0><s5>09</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Genetic linkage</s0><s5>09</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Ligamiento genético</s0><s5>09</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>39</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>39</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>40</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>40</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Striated muscle disease</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Músculo estriado patología</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>43</s5></fC07><fC07 i1="07" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>44</s5></fC07><fN21><s1>035</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Allemagne</li></country><region><li>Hambourg</li></region><settlement><li>Hambourg</li></settlement></list><tree><country name="Allemagne"><region name="Hambourg"><name sortKey="Orth, Michael" sort="Orth, Michael" uniqKey="Orth M" first="Michael" last="Orth">Michael Orth</name></region><name sortKey="B Umer, Tobias" sort="B Umer, Tobias" uniqKey="B Umer T" first="Tobias" last="B Umer">Tobias B Umer</name><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Lohmann Hedrich, Katja" sort="Lohmann Hedrich, Katja" uniqKey="Lohmann Hedrich K" first="Katja" last="Lohmann-Hedrich">Katja Lohmann-Hedrich</name><name sortKey="Lohmann Hedrich, Katja" sort="Lohmann Hedrich, Katja" uniqKey="Lohmann Hedrich K" first="Katja" last="Lohmann-Hedrich">Katja Lohmann-Hedrich</name><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name><name sortKey="Winkler, Susan" sort="Winkler, Susan" uniqKey="Winkler S" first="Susan" last="Winkler">Susan Winkler</name><name sortKey="Winkler, Susan" sort="Winkler, Susan" uniqKey="Winkler S" first="Susan" last="Winkler">Susan Winkler</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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