THE GENETIC SUSCEPTIBILITY TO GILLES-DE-LA-TOURETTE SYNDROME IN A LARGE MULTIPLE AFFECTED BRITISH KINDRED - LINKAGE ANALYSIS EXCLUDES A ROLE FOR THE GENES-CODING FOR DOPAMINE D1, D2, D3, D4, D5 RECEPTORS, DOPAMINE-BETA-HYDROXYLASE, TYROSINASE, AND TYROSINE-HYDROXYLASE
Pm. Brett et al., THE GENETIC SUSCEPTIBILITY TO GILLES-DE-LA-TOURETTE SYNDROME IN A LARGE MULTIPLE AFFECTED BRITISH KINDRED - LINKAGE ANALYSIS EXCLUDES A ROLE FOR THE GENES-CODING FOR DOPAMINE D1, D2, D3, D4, D5 RECEPTORS, DOPAMINE-BETA-HYDROXYLASE, TYROSINASE, AND TYROSINE-HYDROXYLASE, Biological psychiatry, 37(8), 1995, pp. 533-540
Segregation analyses have shown that Gilles de la Tourette Syndrome (G
TS) is transmitted as an autosomal dominant gene disorder indicating t
hat classical linkage analysis should be able to identify susceptibili
ty loci. Previous studies of GTS have included investigations of neuro
receptor function, neurotransmitters, and their metabolites as well as
neurotransmitter-related enzymes in an attempt to determine the patho
physiology of GTS. The neurotransmitter systems most often thought to
be involved in GTS include those involving adrenaline, noradrenaline,
and dopamine, We have carried out research to test the hypothesis that
genes encoding proteins in the catecholamine pathways may contribute
to the genetic etiology of GTS, Polymorphic markers at or near the D1,
D2, D3, D4, D5 neuroreceptor gene loci as well as at the genes encodi
ng dopamine beta hydroxylase (DBH), tyrosinase (TY) and tyrosine hydro
xylase (TH) were studied in one large multiple affected pedigree. The
linkage results of this investigation exclude a major role of these ca
ndidate genes in the etiology of GTS in the pedigree.