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

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Title:	Genetic and clinical analysis of a large Dutch Gilles de la Tourette family.
Authors:	Verkerk, A. J. M. H., Cath, D. C., van der Linde, H. C., Both, J., Heutink, P., Breedveld, G., Aulchenko, Y. S., Oostra, B. A.
Source:	Molecular Psychiatry. Oct2006, Vol. 11 Issue 10, p954-964. 11p. 3 Charts, 3 Graphs.
Subjects:	Tourette syndrome, Genes, Phenotypes, Linkage (Genetics), Chromosomes, Psychiatry
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.Molecular Psychiatry (2006) 11, 954–964. doi:10.1038/sj.mp.4001877; published online 8 August 2006 [ABSTRACT FROM AUTHOR]
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Database:	Psychology and Behavioral Sciences Collection

Description
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.Molecular Psychiatry (2006) 11, 954–964. doi:10.1038/sj.mp.4001877; published online 8 August 2006 [ABSTRACT FROM AUTHOR]
ISSN:	13594184
DOI:	10.1038/sj.mp.4001877