MovDisordV3, PascalFrancis, Corpus, bibRecord, 001474

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

Identifieur interne : 001474 ( PascalFrancis/Corpus ); précédent : 001473; suivant : 001475

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 [ 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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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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)`
A11	`10`	`1`		`@1 MÜNCHAU (Alexander)`
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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A47	`01`	`1`		`@0 08-0069701`
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A66	`01`			`@0 USA`
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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C02	`03`	`X`		`@0 002B17G`
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`
C03	`03`	`X`	`FRE`	`@0 Dystonie @5 03`
C03	`03`	`X`	`ENG`	`@0 Dystonia @5 03`
C03	`03`	`X`	`SPA`	`@0 Distonía @5 03`
C03	`04`	`X`	`FRE`	`@0 Syndrome de Gilles de la Tourette @5 04`
C03	`04`	`X`	`ENG`	`@0 Gilles de la Tourette syndrome @5 04`
C03	`04`	`X`	`SPA`	`@0 Gilles de la Tourette síndrome @5 04`
C03	`05`	`X`	`FRE`	`@0 Liaison génétique @5 09`
C03	`05`	`X`	`ENG`	`@0 Genetic linkage @5 09`
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`
C07	`02`	`X`	`FRE`	`@0 Trouble neurologique @5 39`
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`

Format Inist (serveur)

NO :	PASCAL 08-0069701 INIST
ET :	Autosomal Dominant Myoclonus-Dystonia and Tourette Syndrome in a Family Without Linkage to the SGCE Gene
AU :	ORTH (Michael); DJARMATI (Ana); BÄUMER (Tobias); WINKLER (Susan); GRÜNEWALD (Anne); LOHMANN-HEDRICH (Katja); KABAKCI (Kemal); HAGENAH (Johann); KLEIN (Christine); MÜNCHAU (Alexander)
AF :	Department of Neurology, University Medical Centre Hamburg-Eppendorf/Hamburg/Allemagne (1 aut., 3 aut., 10 aut.); Department of Neurology, University of Lübeck/Lübeck/Allemagne (2 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut.); Department of Human Genetics, University of Lübeck/Lübeck/Allemagne (2 aut., 4 aut., 5 aut., 6 aut., 7 aut., 9 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 14; Pp. 2090-2096; Bibl. 35 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17H; 002B17G
FD :	Pathologie du système nerveux; Myoclonie; Dystonie; Syndrome de Gilles de la Tourette; Liaison génétique
FG :	Mouvement involontaire; Trouble neurologique; Syndrome extrapyramidal; Pathologie du muscle strié; Pathologie de l'encéphale; Maladie dégénérative; Pathologie du système nerveux central
ED :	Nervous system diseases; Myoclonus; Dystonia; Gilles de la Tourette syndrome; Genetic linkage
EG :	Involuntary movement; Neurological disorder; Extrapyramidal syndrome; Striated muscle disease; Cerebral disorder; Degenerative disease; Central nervous system disease
SD :	Sistema nervioso patología; Mioclonia; Distonía; Gilles de la Tourette síndrome; Ligamiento genético
LO :	INIST-20953.354000174393170120
ID :	08-0069701

Links to Exploration step

Pascal:08-0069701

Le document en format XML

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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><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="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name>
<affiliation><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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<affiliation><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>
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<author><name sortKey="Winkler, Susan" sort="Winkler, Susan" uniqKey="Winkler S" first="Susan" last="Winkler">Susan Winkler</name>
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<author><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1>
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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><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
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<affiliation><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><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1>
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<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<affiliation><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>
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<sZ>7 aut.</sZ>
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<sZ>9 aut.</sZ>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><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>
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<affiliation><inist:fA14 i1="03"><s1>Department of Human Genetics, University of Lübeck</s1>
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<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University Medical Centre Hamburg-Eppendorf</s1>
<s2>Hamburg</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
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<term>Nervous system diseases</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</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 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>
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<fC07 i1="04" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
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<fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
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<server><NO>PASCAL 08-0069701 INIST</NO>
<ET>Autosomal Dominant Myoclonus-Dystonia and Tourette Syndrome in a Family Without Linkage to the SGCE Gene</ET>
<AU>ORTH (Michael); DJARMATI (Ana); BÄUMER (Tobias); WINKLER (Susan); GRÜNEWALD (Anne); LOHMANN-HEDRICH (Katja); KABAKCI (Kemal); HAGENAH (Johann); KLEIN (Christine); MÜNCHAU (Alexander)</AU>
<AF>Department of Neurology, University Medical Centre Hamburg-Eppendorf/Hamburg/Allemagne (1 aut., 3 aut., 10 aut.); Department of Neurology, University of Lübeck/Lübeck/Allemagne (2 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut.); Department of Human Genetics, University of Lübeck/Lübeck/Allemagne (2 aut., 4 aut., 5 aut., 6 aut., 7 aut., 9 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
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<EA>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.</EA>
<CC>002B17; 002B17H; 002B17G</CC>
<FD>Pathologie du   système nerveux; Myoclonie; Dystonie; Syndrome de Gilles de la Tourette; Liaison génétique</FD>
<FG>Mouvement involontaire; Trouble neurologique; Syndrome extrapyramidal; Pathologie du muscle strié; Pathologie de l'encéphale; Maladie dégénérative; Pathologie du système nerveux central</FG>
<ED>Nervous system diseases; Myoclonus; Dystonia; Gilles de la Tourette syndrome; Genetic linkage</ED>
<EG>Involuntary movement; Neurological disorder; Extrapyramidal syndrome; Striated muscle disease; Cerebral disorder; Degenerative disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Mioclonia; Distonía; Gilles de la Tourette síndrome; Ligamiento genético</SD>
<LO>INIST-20953.354000174393170120</LO>
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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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