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Whither the Relationship Between Etiology and Phenotype in Tourette Syndrome? 

Whither the Relationship Between Etiology and Phenotype in Tourette Syndrome?
Whither the Relationship Between Etiology and Phenotype in Tourette Syndrome?

Mary M. Robertson

and Valsamma Eapen

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date: 06 April 2020

The Tourette syndrome (TS) phenotype is not unitary but heterogeneous. This chapter offers a critical commentary on available research on the definition of the phenotype of TS, analyzed from different perspectives, and provides an update on the nosography of tic disorders. Endophenotype studies indicate that there are indeed a few correlations between etiology and phenotype, and this is an exciting area. Gender and other behavioral differences may indicate different etiological factors, and there is some evidence to suggest the existence of obsessive-compulsive behavior/disorder endophenotpyes. Early neuroimaging studies suggest that this may be due to prenatal and perinatal difficulties, which influence the phenotypic expression of the TS gene(s). Thus, replication studies are required with similar methods and with the TS patients subdivided into phenotypes. The clinical phenotype and the severity of symptoms, as well as the associated psychopathology observed in TS, may be influenced by the nature and extent of involvement of the above circuitry based on both genetic and nongenetic factors as well as the developmental period in question. There may be shared molecular genetic pathways affecting development across diagnostic boundaries mediated through neurodevelopmental genes.

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