@article{e9368ee26b0b4737a3b0bf211a62b075,
title = "Genome scan for tourette disorder in affected-sibling-pair and multigenerational families",
abstract = "Tourette disorder (TD) is a neuropsychiatric disorder with a complex mode of inheritance and is characterized by multiple waxing and waning motor and phonic tics. This article reports the results of the largest genetic linkage study yet undertaken for TD. The sample analyzed includes 238 nuclear families yielding 304 {"}independent{"} sibling pairs and 18 separate multigenerational families, for a total of 2,040 individuals. A whole-genome screen with the use of 390 microsatellite markers was completed. Analyses were completed using two diagnostic classifications: (1) only individuals with TD were included as affected and (2) individuals with either TD or chronic-tic (CT) disorder were included as affected. Strong evidence of linkage was observed for a region on chromosome 2p (- logP = 4.42, P = 3.8 × 10-5) in the analyses that included individuals with TD or CT disorder as affected. Results in several other regions also provide moderate evidence (- logP >2.0) of additional susceptibility loci for TD.",
author = "David Pauls and D. Cath and P. Heutink and M. Grados and Singer, {H. S.} and Walkup, {J. T.} and C. Illmann and Scharf, {J. M.} and S. Santangelo and Stewart, {S. E.} and J. Platko and Pauls, {D. L.} and Cox, {N. J.} and Robertson, {M. M.} and S. Service and D. Keen-Kim and C. Sabatti and N. Freimer and Rouleau, {G. A.} and Riviere, {J. B.} and S. Chouinard and F. Richer and P. Lesperance and Y. Dion and King, {R. A.} and Kidd, {J. R.} and Pakstis, {A. J.} and Leckman, {J. F.} and Kidd, {K. K.} and G. Gericke and R. Kurlan and P. Como and D. Palumbo and A. Verkerk and Oostra, {B. A.} and W. McMahon and M. Leppert and H. Coon and C. Mathews and P. Sandor and Barr, {C. L.} and C. Betard and D. Zelenika",
note = "Funding Information: The members of TSAICG are as follows, listed alphabetically by city: D. Cath and P. Heutink, Departments of Psychiatry and Human Genetics, Free University Medical Center Amsterdam, Amsterdam, The Netherlands; M. Grados, H. S. Singer, and J. T. Walkup, Departments of Psychiatry and Neurology, Johns Hopkins University School of Medicine, Baltimore; C. Illmann, J. M. Scharf, S. Santangelo, S. E. Stewart, J. Platko, and D. L. Pauls, Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston; N. J. Cox, Departments of Medicine and Human Genetics, University of Chicago, Chicago; M. M. Robertson, Department of Mental Health Sciences, University College London Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London; S. Service, D. Keen-Kim, C. Sabatti, and N. Freimer, Departments of Psychiatry, Human Genetics and Statistics, University of California–Los Angeles Medical School, Los Angeles; G. A. Rouleau, J.-B. Riviere, S. Chouinard, F. Richer, P. Lesperance, and Y. Dion, University of Montreal, Montreal; R. A. King, J. R. Kidd, A. J. Pakstis, J. F. Leckman, and K. K. Kidd, Department of Genetics and the Child Study Center, Yale University School of Medicine, New Haven, CT; G. Gericke, Department of Biomedical Sciences, Tshwane University of Technology, Pretoria, South Africa; R. Kurlan, P. Como, and D. Palumbo, Department of Neurology, University of Rochester School of Medicine, Rochester, NY; A. Verkerk and B. A. Oostra, Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands; W. McMahon, M. Leppert, and H. Coon, Departments of Psychiatry and Human Genetics, University of Utah School of Medicine, Salt Lake City; C. Mathews, Department of Psychiatry, University of California–San Francisco, San Francisco; and P. Sandor and C. L. Barr, Department of Psychiatry, The Toronto Hospital and University of Toronto, Toronto. C. Betard and D. Zelenika, Centre National de G{\'e}notypage, Evry, France, also contributed to this work. The TSAICG is grateful to all the families with TD, in all of the participating centers, who generously agreed to be part of this study. Furthermore, the members of the Consortium are deeply indebted to the Tourette Syndrome Association (TSA)—in particular, to Ms. Judit Ungar, TSA president, and Ms. Sue Levi-Pearl, TSA director of medical and scientific programs. Both have dedicated their professional lives to the understanding and treatment of TD. Their tireless efforts to help move the research forward were critical to the success of the project. Without their support, guidance, and prodding, this study would not have been possible. The Consortium also sincerely thanks the members of the TSA Board of Directors for their continuing support. Finally, the members of the Consortium thank the advisors to the collaborative group, who include the following volunteer members of the TSA Scientific Advisory Board{\textquoteright}s Subcommittee for Genetics: P. Michael Conneally, Francis McMahon, John Rice, Neal Swerdlow, Peter Hollenbeck, and Jonathan Mink. The TSAICG acknowledges J. Hebebrand, B. Klug, and H. Remschmidt, Department of Child and Adolescent Psychiatry, Phipps University, Marburg, Germany; J. L. Weber, B. C. Hiner, and M. Spindler, Center for Medical Genetics, Marshfield Medical Foundation, Marshfield, WI; and J. Jankovic, Department of Neurology, Baylor College of Medicine, Houston, for their assistance in collecting data from sib-pair families that were included in this genome scan. This work was supported by funds from the TSA and by National Institutes of Health grant NS 40024. The final manuscript was prepared by Drs. Pauls, Cox, Freimer, Oostra, McMahon, and Walkup, with input from members of the Consortium. ",
year = "2007",
month = feb,
doi = "10.1086/511052",
language = "English (US)",
volume = "80",
pages = "265--272",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "2",
}