MovDisordV3, PascalFrancis, Curation, bibRecord, 001845

Autosomal Dominant Myoclonus-Dystonia and Tourette Syndrome in a Family Without Linkage to the SGCE Gene

Identifieur interne : 001845 ( PascalFrancis/Curation ); précédent : 001844; suivant : 001846

Autosomal 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.

RBID : Pascal:08-0069701

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Myoclonie, Dystonie, Syndrome de Gilles de la Tourette, Liaison génétique.

English descriptors

KwdEn :
- Dystonia, Genetic linkage, Gilles de la Tourette syndrome, Myoclonus, Nervous system diseases.

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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A08	`01`	`1`	`ENG`	`@1 Autosomal Dominant Myoclonus-Dystonia and Tourette Syndrome in a Family Without Linkage to the SGCE Gene`
A11	`01`	`1`		`@1 ORTH (Michael)`
A11	`02`	`1`		`@1 DJARMATI (Ana)`
A11	`03`	`1`		`@1 BÄUMER (Tobias)`
A11	`04`	`1`		`@1 WINKLER (Susan)`
A11	`05`	`1`		`@1 GRÜNEWALD (Anne)`
A11	`06`	`1`		`@1 LOHMANN-HEDRICH (Katja)`
A11	`07`	`1`		`@1 KABAKCI (Kemal)`
A11	`08`	`1`		`@1 HAGENAH (Johann)`
A11	`09`	`1`		`@1 KLEIN (Christine)`
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A14	`01`			`@1 Department of Neurology, University Medical Centre Hamburg-Eppendorf @2 Hamburg @3 DEU @Z 1 aut. @Z 3 aut. @Z 10 aut.`
A14	`02`			`@1 Department of Neurology, University of Lübeck @2 Lübeck @3 DEU @Z 2 aut. @Z 4 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut. @Z 8 aut. @Z 9 aut.`
A14	`03`			`@1 Department of Human Genetics, University of Lübeck @2 Lübeck @3 DEU @Z 2 aut. @Z 4 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut. @Z 9 aut.`
A20				`@1 2090-2096`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000174393170120`
A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 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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C03	`01`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Myoclonie @5 02`
C03	`02`	`X`	`ENG`	`@0 Myoclonus @5 02`
C03	`02`	`X`	`SPA`	`@0 Mioclonia @5 02`
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C03	`05`	`X`	`SPA`	`@0 Ligamiento genético @5 09`
C07	`01`	`X`	`FRE`	`@0 Mouvement involontaire @5 37`
C07	`01`	`X`	`ENG`	`@0 Involuntary movement @5 37`
C07	`01`	`X`	`SPA`	`@0 Movimiento involuntario @5 37`
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C07	`02`	`X`	`ENG`	`@0 Neurological disorder @5 39`
C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 39`
C07	`03`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 40`
C07	`03`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 40`
C07	`03`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 40`
C07	`04`	`X`	`FRE`	`@0 Pathologie du muscle strié @5 41`
C07	`04`	`X`	`ENG`	`@0 Striated muscle disease @5 41`
C07	`04`	`X`	`SPA`	`@0 Músculo estriado patología @5 41`
C07	`05`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 42`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 42`
C07	`06`	`X`	`FRE`	`@0 Maladie dégénérative @5 43`
C07	`06`	`X`	`ENG`	`@0 Degenerative disease @5 43`
C07	`06`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 43`
C07	`07`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 44`
C07	`07`	`X`	`ENG`	`@0 Central nervous system disease @5 44`
C07	`07`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 44`
N21				`@1 035`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:08-0069701

Le document en format XML

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<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="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>
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<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" 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="1"><inist:fA14 i1="01"><s1>Department of Neurology, University Medical Centre Hamburg-Eppendorf</s1>
<s2>Hamburg</s2>
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<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>
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<country>Allemagne</country>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1>
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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>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University Medical Centre Hamburg-Eppendorf</s1>
<s2>Hamburg</s2>
<s3>DEU</s3>
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<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>
</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>
</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>
</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>
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<country>Allemagne</country>
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<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>
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<country>Allemagne</country>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1>
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<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>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1>
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<sZ>5 aut.</sZ>
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<country>Allemagne</country>
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<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>
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<sZ>5 aut.</sZ>
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<sZ>9 aut.</sZ>
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<country>Allemagne</country>
</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>
</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>
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<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
<affiliation wicri:level="1"><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>
</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>
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<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>
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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 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>
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<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>
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<fA11 i1="01" i2="1"><s1>ORTH (Michael)</s1>
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<fA11 i1="02" i2="1"><s1>DJARMATI (Ana)</s1>
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<fA11 i1="03" i2="1"><s1>BÄUMER (Tobias)</s1>
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<fA11 i1="05" i2="1"><s1>GRÜNEWALD (Anne)</s1>
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<fA11 i1="06" i2="1"><s1>LOHMANN-HEDRICH (Katja)</s1>
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<fA11 i1="07" i2="1"><s1>KABAKCI (Kemal)</s1>
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<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>
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<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>7 aut.</sZ>
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<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>
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<fA20><s1>2090-2096</s1>
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<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>
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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

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