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Genetic and clinical analysis of a large Dutch Gilles de la Tourette family

Molecular Psychiatry volume 11, pages 954–964 (2006)Cite this article

Abstract

Gilles de la Tourette syndrome is a complex neuropsychiatric disorder, which becomes evident in childhood between the ages of 2 and 15 years. Tourette syndrome is defined by the occurrence of a large range and variable number of unwanted repetitive simple or complex motor and vocal tics that start in childhood and follow a waxing and waning course. A major gene for this syndrome has not yet been identified, probably owing to both genetic and phenotypic heterogeneity of this disease. This article describes the clinical evaluation of patients and family members in a large Dutch Gilles de la Tourette Syndrome pedigree and the decisions encountered with respect to phenotyping. The importance of an accurate definition of the Tourette phenotype is discussed, which is highly important for reliable genetic linkage and association studies. Subsequent linkage analysis resulted in three linkage peaks on different chromosomes 3q, 9q, and 13q. Multipoint analysis resulted in a single linkage peak with logarithm of odds score 2.55 with marker D3S1311 on chromosome 3q.

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Acknowledgements

We acknowledge the family members for their cooperation. This work was supported by grants from the US National Institutes of Health (NS-40024-01) to AJMHV and DCC. We thank Dr M State for supplying the SLITRK1 primers.

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Author notes

  1. A J M H Verkerk and D C Cath: These authors contributed equally to this paper.

Authors and Affiliations

  1. Department of Bioinformatics, Erasmus Medical Center, Rotterdam, The Netherlands

    A J M H Verkerk

  2. Department of Psychiatry, VU Medical Center/Academic Anxiety Outpatient Clinic, GGZ Buitenamstel, Amsterdam, The Netherlands

    D C Cath & J Both

  3. Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands

    A J M H Verkerk, H C van der Linde, G Breedveld & B A Oostra

  4. Department of Human Genetics, Section of Medical Genomics, VU University Medical Center, and Center for Neurogenomics and Cognitive Research, VU University and VU University Medical Center, Amsterdam, The Netherlands

    P Heutink

  5. Department of Epidemiology & Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands

    Y S Aulchenko

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Verkerk, A., Cath, D., van der Linde, H. et al. Genetic and clinical analysis of a large Dutch Gilles de la Tourette family. Mol Psychiatry 11, 954–964 (2006). https://doi.org/10.1038/sj.mp.4001877

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