ArticleNeurogenetics2010
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.
Article in Neurogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 28 citations in OpenAlex.
- Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome.International journal of molecular sciences · 2024Article
- Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023Article
- Genomic Targets of Positive Selection in Giant Mice from Gough Island.Molecular biology and evolution · 2021Article
- Endocytic Adaptor Proteins in Health and Disease: Lessons from Model Organisms and Human Mutations.Cells · 2019Review
- Overlapping functions of stonin 2 and SV2 in sorting of the calcium sensor synaptotagmin 1 to synaptic vesicles.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- The Inheritance of Tourette Disorder: A review.Journal of obsessive-compulsive and related disorders · 2014Article
- Compromised fidelity of endocytic synaptic vesicle protein sorting in the absence of stonin 2.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Genetic susceptibility and neurotransmitters in Tourette syndrome.International review of neurobiology · 2013Review
- Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.Translational psychiatry · 2012Review
- The genetics of Tourette syndrome.Nature reviews. Neurology · 2012Review
- The genetics of Tourette disorder.Current opinion in genetics & development · 2011Review
- Review
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tourette syndrome (TS) is a frequent neuropsychiatric disorder of unknown etiology. A number of chromosomal regions have been nominated as TS loci in linkage studies, but confirmation has met with limited success and causative mutations have not yet been definitely identified. Furthermore, TS, chronic tics, and obsessive-compulsive disorder (OCD) occur at increased frequencies among TS relatives, supporting the view that these phenotypes represent parts of the same genetically determined spectrum. We ascertained a four-generation Italian kindred segregating TS, chronic multiple motor tics (CMT), and OCD, and we performed a ten-centimorgan (cM) genome-wide linkage scan in order to map the underlying genetic defect. Suggestive linkage to chromosome 14q31.1 (multipoint LOD=2.4) was detected by affected-only analysis under an autosomal dominant model and a narrower phenotype definition (only the subjects with TS and CMT were considered as affected). The linkage peak increased and it approached genome-wide significance (LOD=3.29) when a broader phenotype definition was adopted (subjects with TS, CMT, and OCD considered as affected). Haplotype analysis defined a ∼2.3 cM critical region, shared by all the relatives with TS, CMT, or OCD. In conclusion, we provide strong evidence for linkage of TS spectrum to chromosome 14q31.1. Suggestive linkage to an overlapping region of chromosome 14q was reported in a recent scan of TS sibling pairs. This region might therefore contain an important gene for TS, and it should be prioritized for further study.
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