BILINEAL TRANSMISSION IN TOURETTES-SYNDROME FAMILIES

We assessed the frequency of bilineal (from maternal and paternal sides) transmission of Tourette's syndrome (TS) in two groups of pedigrees: (1) 39 high-density families in which five or more relatives were reported to have TS, and (2) the families of 39 consecutively ascertained probands referred for evaluation of TS. We used two designations for the TS phenotype (ties, ties or obsessive-compulsive behavior [OCB]), and we attempted to verify bilineal transmission with direct examinations. For the high-density pedigrees, bilineal transmission was evident in 33% (considering ties) and 41% (considering ties or OCB) of families, which was confirmed by examination in 77% of the kindreds. For the consecutive pedigrees, bilineal transmission was seen in 15% (ties) and 26% (ties or OCB) of families, which was verified by examination in 66% of the kindreds. Both parents of the proband were affected (ties or OCB) in 38% of the high-density pedigrees and 10% of the consecutive pedigrees. For the high-density families only, the frequency of bilineal transmission appeared to be related to the proband's severity of TS, and for both pedigree groups, the frequency of both parents being affected was higher in families in which the proband's symptoms were most severe. Our findings support the contention that bilineal transmission and homozygosity are common in TS. These genetic phenomena might play a role in determining severity of illness and may explain current difficulties in localizing the gene defect by linkage analysis.