, Volume 6, Issue 1, pp 55-56
Date: 31 Dec 2004

Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome

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Sirs,

Gilles de la Tourette syndrome (GTS) is a genetically heterogeneous neurodevelopmental disorder characterized by vocal or motor tics [1]. In most cases patients show additional psychiatric symptoms, such as obsessive compulsive disorder (OCD). Several chromosomal loci, including a balanced translocation [t(7;18)(q22-q31;q22.3)] [2] and a de novo duplication [dup(7)(q22.1-q31.1)], have been detected in individual patients, but so far no common genetic cause for GTS has been identified.

Mutations in the epsilon-sarcoglycan (SGCE) gene at chromosome 7q21.3 cause myoclonus-dystonia (M-D, DYT11), an autosomal-dominantly inherited movement disorder characterized by “lightning-like” myoclonic jerks and focal or segmental dystonia. In many M-D patients, OCD and generalized anxiety disorder are part of the syndrome.

Because of these phenotypic similarities and the adjacent chromosomal location we screened 83 sporadic childhood-onset GTS patients (mean age at onset 6.3 ± 2.6 years) to test fo ...