Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.
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.
Orth
Michael
M
Department of Neurology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
Djarmati
Ana
A
Bäumer
Tobias
T
Winkler
Susan
S
Grünewald
Anne
A
Lohmann-Hedrich
Katja
K
Kabakci
Kemal
K
Hagenah
Johann
J
Klein
Christine
C
Münchau
Alexander
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*; D005879:Tourette Syndrome / Q000235:genetics*
D049031:Sarcoglycans