MovDisordV3, Main, Exploration, bibRecord, 002F97

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

Identifieur interne : 002F97 ( Main/Exploration ); précédent : 002F96; suivant : 002F98

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 ] ; 2007-10-31.

RBID : ISTEX:FFC09424E85EDD2230AEDA8F276F578B7DC8613F

Descripteurs français

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

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Child, DNA Mutational Analysis (methods), DYT 1 gene, Dystonia, Family Health, Female, Genetic Linkage, Genetic linkage, Gilles de la Tourette syndrome, Humans, Male, Middle Aged, Muscular Dystrophy, Emery-Dreifuss (genetics), Myoclonus, Nervous system diseases, Sarcoglycans (genetics), Slit and Trk‐like 1 gene, Tourette Syndrome (genetics), myoclonus‐dystonia, ε‐sarcoglycan gene.
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 ε‐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. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/FFC09424E85EDD2230AEDA8F276F578B7DC8613F/fulltext/pdf

DOI: 10.1002/mds.21674

Affiliations:

Le document en format XML

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<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>DNA Mutational Analysis (methods)</term>
<term>DYT 1 gene</term>
<term>Dystonia</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Linkage</term>
<term>Genetic linkage</term>
<term>Gilles de la Tourette syndrome</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
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<term>Tourette Syndrome (genetics)</term>
<term>myoclonus‐dystonia</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Muscular Dystrophy, Emery-Dreifuss</term>
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<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Child</term>
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<term>Genetic Linkage</term>
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<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 ε‐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. © 2007 Movement Disorder Society</div>
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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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Descripteurs français

English descriptors

Abstract

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	Movement Disorders (revue)
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