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

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Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. / Orth, Michael; Djarmati, Ana; Bäumer, Tobias; Winkler, Susan; Grünewald, Anne; Lohmann-Hedrich, Katja; Kabakci, Kemal; Hagenah, Johann; Klein, Christine; Münchau, Alexander.

in: MOVEMENT DISORD, Jahrgang 22, Nr. 14, 14, 2007, S. 2090-2096.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Orth, M, Djarmati, A, Bäumer, T, Winkler, S, Grünewald, A, Lohmann-Hedrich, K, Kabakci, K, Hagenah, J, Klein, C & Münchau, A 2007, 'Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.', MOVEMENT DISORD, Jg. 22, Nr. 14, 14, S. 2090-2096. <http://www.ncbi.nlm.nih.gov/pubmed/17702041?dopt=Citation>

APA

Orth, M., Djarmati, A., Bäumer, T., Winkler, S., Grünewald, A., Lohmann-Hedrich, K., Kabakci, K., Hagenah, J., Klein, C., & Münchau, A. (2007). Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. MOVEMENT DISORD, 22(14), 2090-2096. [14]. http://www.ncbi.nlm.nih.gov/pubmed/17702041?dopt=Citation

Vancouver

Orth M, Djarmati A, Bäumer T, Winkler S, Grünewald A, Lohmann-Hedrich K et al. Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. MOVEMENT DISORD. 2007;22(14):2090-2096. 14.

Bibtex

@article{6dac9123c63d46b58da85081eb41cd7b,
title = "Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.",
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. 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.",
author = "Michael Orth and Ana Djarmati and Tobias B{\"a}umer and Susan Winkler and Anne Gr{\"u}newald and Katja Lohmann-Hedrich and Kemal Kabakci and Johann Hagenah and Christine Klein and Alexander M{\"u}nchau",
year = "2007",
language = "English",
volume = "22",
pages = "2090--2096",
journal = "MOVEMENT DISORD",
issn = "0885-3185",
publisher = "John Wiley and Sons Inc.",
number = "14",

}

RIS

TY - JOUR

T1 - Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.

AU - Orth, Michael

AU - Djarmati, Ana

AU - Bäumer, Tobias

AU - Winkler, Susan

AU - Grünewald, Anne

AU - Lohmann-Hedrich, Katja

AU - Kabakci, Kemal

AU - Hagenah, Johann

AU - Klein, Christine

AU - Münchau, Alexander

PY - 2007

Y1 - 2007

N2 - 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. 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.

AB - 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. 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.

M3 - SCORING: Journal article

VL - 22

SP - 2090

EP - 2096

JO - MOVEMENT DISORD

JF - MOVEMENT DISORD

SN - 0885-3185

IS - 14

M1 - 14

ER -