UK Research into the Genetics of Gilles de la Tourette

Grant Type
Basic
Grant Year
1989
Institution Location
Foreign
Institution Organization Name
University of London (Middlesex) UK
Investigators Name
Robertson, Mary, MD

We in the United Kingdom have been working on TS linkage studies along with others in the international group. The following represents our progress to date. An individual suffering from TS has been identified as having a balanced translocation involving chromosomes 3 and 8. Because of this finding it was reasoned that an abnormality on either of these two chromosomes could be responsible for TS in other families. This has formed the basis for linkage analysis of a large affected pedigree using gene markers that are close to the regions implicated by the cytogenetic abnormality. The presence of a gene causing TS on the chromosome 3 region affected by the translocation has been investigated and excluded using RFLPs localized to chromosome 3. The involvement of chromosome 8 is still under investigation. Another locus that has been studied is the q21-22 region of chromosome 18 previously implicated by the finding of cytogenetic abnormalities in affected TS and obsessive compulsive disorder patients. In our own family the presence of a gene for TS in this region has been excluded. DNA from the pedigree we have been studying has been sent to Dr. B. Oostra and Dr. B. Van De Wetering in Rotterdam in order to increase the total sample available to the Dutch group. Some further multiply-affected families with the Gilles de la Tourette Syndrome have been ascertained and interviewed using standardized psychiatric rating scales and interview schedules to improve genetic linkage work and to assess various aspects of the symptomatology of TS and associated psychopathology. Mary Robertson, M.D., Hugh Gurling, M.D. University of London (Middlesex) UK Award: $50,000 Tourette Association of America Inc.. – Research Grant Award 1989