Current status of genetic studies of Gilles de la Tourette syndrome

Canadian Journal of Psychiatry

Volumn 43, Issue 4, 1998, Pages 351-357

  Barr, Cathy L ^a,b,c   Sandor, Paul ^a,c,d  

^a TORONTO WESTERN HOSPITAL   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d Tourette' S Syndrome Clinic

Author keywords

Genetics; Linkage; Obsessive compulsive disorder; Tourette syndrome

Indexed keywords

DNA; DOPAMINE; DOPAMINE BETA MONOOXYGENASE; DOPAMINE RECEPTOR; DOPAMINE TRANSPORTER; MONOPHENOL MONOOXYGENASE; NEUROLEPTIC AGENT; NEUROTRANSMITTER; SEROTONIN RECEPTOR; SEROTONIN TRANSPORTER; TRYPTOPHAN 2,3 DIOXYGENASE; TYROSINE 3 MONOOXYGENASE;

AKATHISIA; ALLELE; DNA SEQUENCE; DROWSINESS; DYSKINESIA; GENE; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GILLES DE LA TOURETTE SYNDROME; HUMAN; PEDIGREE; PHENOTYPE; REVIEW;

EID: 0031753456     PISSN: 07067437     EISSN: None     Source Type: Journal    
DOI: 10.1177/070674379804300402     Document Type: Review

References (86)

1. American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 4th ed. Washington (DC): American Psychiatric Association; 1994.
2. Singer HS, Walkup JT. Tourette syndrome and other tic disorders. Diagnosis, pathophysiology, and treatment Medicine (Baltimore) 1991;70:15-32.
3. Comings DE, Himes JA, Comings BG. An epidemiologic study of Tourette's syndrome in a single school district J Clin Psychiatry 1990;51:463-9.
4. Kurlan R, Eapen V, Stern J, McDermott MP, Robertson MM. Bilineal transmission in Tourette's syndrome families. Neurology 1994;44:2336-42.
5. Gilles de la Tourette G. Etude sur une affection nerveuse caraterisee par de I'incoordination motrice accompagnee d'echolalie et de coprolie. Archives of Neurologie 1885;9:19-42, 158-200.
6. Kidd KK, Pauls DL. Genetic hypothesis for Tourette syndrome. In: Friedhoff AJ, Chase TN, editors. Gilles de la Tourette syndrome, New York: Raven Press; 1982. p 243-9.
7. Shapiro AK, Shapiro ES, Young JG, Feinberg TE, editors. Gilles de la Tourette syndrome. 2nd ed. New York: Raven Press; 1988.
8. Eldridge R, Sweet R, Lake R, Ziegler M, Shapiro AK. Gilles de la Tourette's syndrome: clinical, genetic, psychologic, and biochemical aspects in 21 selected families. Neurology 1977;27:115-24.
9. Kidd KK, Prusoff BA, Cohen DJ. Familial pattern of Gilles de la Tourette syndrome. Arch Gen Psychiatry 1980;37:1336-9.
10. Baron M, Shapiro E, Shapiro A, Rainer JD. Genetic analysis ofTourette syndrome suggesting major gene effect. Am J Hum Genet 198l;33:767-75.
11. Comings DE, Comings BG, Devor EJ, Cloninger CR. Detection of major gene for Gilles de la Tourette syndrome. Am J Hum Genet 1984;36:586-600.
12. Devor EJ. Complex segregation analysis of Gilles de la Tourette syndrome: further evidence for a major locus mode of transmission. Am J Hum Genet 1984;36;704-9.
13. Price RA, Pauls DL, Kruger SD, Caine ED. Family data support a dominant major gene for Tourette syndrome. Psychiatry Res 1988;24:251-61.
14. Pauls DL, Pakstis AJ, Kurlan R, Kidd KK, Leckman JF, Cohen DJ, and others. Segregation and linkage analyses of Tourette's syndrome and related disorders. J Am Acad Child Adolesc Psychiatry 1990;29:195-203.
15. Curtis D, Robertson MM, Gurling HM. Autosomal dominant gene transmission in a large kindred with Gilles de la Tourette syndrome. Br J Psychiatry 1992; 160:845-9.
16. Eapen V, Pauls DL, Robertson MM. Evidence for autosomal dominant transmission in Tourette's syndrome. United Kingdom cohort study. Br J Psychiatry 1993;162:593-6.
17. Cavallini MC, Macciardi F, Pasquale L, Bellodi L, Smeraldi E. Complex segregation analysis of obsessive compulsive and spectrum related disorders [abstract]. Psychiatr Genet 1995;5:31.
18. Pauls DL,Towbin KE, Leckman JF, Zahner GE, Cohen DJ. Gilles de la Tourette's syndrome and obsessive-compulsive disorder. Evidence supporting a genetic relationship. Arch Gen Psychiatry 1986;43:1180-2.
19. Pauls DL, Raymond CL, Stevenson JM, Leckman JF. A family study of Gilles de la Tourette syndrome. Am J Hum Genet 1991;48:154-63.
20. Waikup JT, LaBuda MC, Singer HS, Brown J, Riddle MA, Hurko O. Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance. Am J Hum Genet 1996;59:684-93.
21. Price RA, Kidd KK, Cohen DJ, Pauls DL, Leckman JF. A twin study of Tourette syndrome. Arch Gen Psychiatry 1985;42:815-20.
22. Walkup JT, Leckman JF, Price RA, Hardin M, Ort SI, Cohen DJ. The relationship between obsessive-compulsive disorder and Tourette's syndrome: a twin study. Psychopharmacol Bull 1988;24:375-9.
23. Leckman JF, Price RA, Walkup JT, Ort S, Pauls DL, Cohen DJ. Nongenetic factors in Gilles de la Tourette's syndrome [letter to the editor]. Arch Gen Psychiatry 1987;44:100.
24. Hyde TM, Aaronson BA, Randolph C, Rickler KC, Weinberger DR. Relationship of birth weight to the phenotypic expression of Gilles de la Tourette's syndrome in monozygotic twins. Neurology 1992;42:652-8.
25. Leonard HL, Swedo SE, Rapoport JL, Rickler KC, Topol D, Lee S, and others. Tourette syndrome and obsessive-compulsive disorder. Adv Neurol 1992;58:83-93.
26. American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 3rd edition. Revised. Washington (DC): American Psychiatric Association; 1987.
27. Leonard HL, Lenane MC, Swedo SE, Rettew DC, Gershon ES, Rapoport JL. Tics and Tourette's disorder: a 2- to 7-year follow-up of 54 obsessive-compulsive children. Am J Psychiatry 1992; 149:1244-51.
28. Leckman JF, Grice DE, Boardman J, Zhang H, Vitale A, Bondi C, and others. Symptoms of obsessive-compulsive disorder. Am J Psychiatry 1997;54:911-7.
29. McDougle CJ, Goodman WK, Leckman JF, Lee NC, Heninger GR, Price LH. Haloperidol addition in fluvoxamine-refractory obsessive-compulsive disorder. A double-blind, placebo-controlled study in patients with and without tics. Arch Gen Psychiatry 1994;51:302-8.
30. Eapen V, Robertson MM, Alsobrook II JP, Pauls DL. Obsessive compulsive symptoms in Gilles de la Tourette syndrome and obsessive compulsive disorder: differences by diagnosis and family history. Am J Med Genet 1997;74;432-8.
31. Hasstedt SJ, Leppert M, Filloux F, van de Wetering BJ, McMahon WM. Intermediate inheritance of Tourette syndrome, assuming assortative mating. Am J Hum Genet 1995;57:682-9.
32. Comings DE, Comings BG, Knell E. Hypothesis: homozygosity in Tourette syndrome. Am J Med Genet 1989;34:413-21.
33. Kan YW, Dozy AM. Polymorphism of DNA sequence adjacent to human betaglobin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A 1978;75:5631-5.
34. Botstein D, White RL, Skolnick M, Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 1980;32:314-31.
35. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-96.
36. Heutink P, van de Wetering BJM, Breedveld GJ, Oostra BA. Genetic study on Tourette syndrome in the Netherlands. In: Chase TN, Friedhoff AJ, Cohen DJ, editors. Advances in neurology. New York: Raven Press; 1992, p 167-72.
37. Pakstis AJ, Heutink P, Pauls DL, Kurlan R, van de Wetering BJ, Leckman JF, and others. Progress in the search for genetic linkage with Tourette syndrome: an exclusion map covering more than 50% of the autosomal genome. Am J Hum Genet 1991;48:281-94.
38. Heutink P, van de Wetering BJ, Breedveld GJ, Weber J, Sandkuyl LA, Devor EJ, and others. No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18. J Med Genet 1990;27:433-6.
39. Barr CL, Wigg KG, Zovko E, Sandor P, Tsui L-C. Genome scan for linkage to Gilles de la Tourette Syndrome [abstract]. Psychiatr Genet 1995;5(1 Suppl):106S.
40. Leppert M, Peiffer A, Snyder B, van de Wetering BJM, Filloux F, Coon H, and others. Two loci of interest in a family with Tourette syndrome. Am J Hum Genet 1996;59(Suppl):225A.
41. Wilkie PJ, Ahmann PA, Hardacre J, LaPlant RJ, Hiner BC, Weber JL. Application of microsatellite DNA polymorphisms to linkage mapping of Tourette syndrome gene(s). In: Chase TN, Friedhoff AJ, Cohen DJ, editors. Advances in neurology. New York: Raven Press; 1992. p 173-80.
42. Brett P, Curtis D, Gourdie A, Schnieden V, Jackson G, Holmes D, and others. Possible linkage of Tourette syndrome to markers on short arm of chromosome 3 (C3p21-14) [letter]. Lancet 1990;336:1076.
43. Heutink P, Sandkuyl LA, van de Wetering BJ, Oostra BA, Weber J, Wilkie P, and others. Linkage and Tourette syndrome [letter]. Lancet 1991;337:122-3.
44. Comings DE, Comings BG, Muhleman D, Dietz G, Shahbahrami B, Tast D, and others. The dopamine D2 receptor locus as a modifying gene in neuropsychiatric disorders. JAMA 1991;266:1793-800.
45. Gelernter J, Pauls DL, Leckman J, Kidd KK, Kurlan R. D2 dopamine receptor alleles do not influence severity of Tourette's syndrome. Results from four large kindreds. Arch Neurol 1994;51:397-400.
46. Brett PM, Curtis D, Robertson MM, Gurling HM. The genetic susceptibility to Gilles de la Tourette syndrome in a large multiple affected British kindred: linkage analysis excludes a role for the genes coding for dopamine D1, D2, D3, D4, D5 receptors, dopamine beta hydroxylase, tyrosinase, and tyrosine hydroxylase. Biol Psychiatry 1995;37:533-40.
47. Nothen MM, Hebebrand J, Knapp M, Hebebrand K, Camps A, von Gontard A, and others. Association analysis of the dopamine D2 receptor gene in Tourette's syndrome using the haplotype relative risk method. Am J Med Genet 1994;54:249-52.
48. Barr CL, Kidd KK. Population frequencies of the Al allele at the dopamine D2 receptor locus, Biol Psychiatry 1993;34:204-9.
49. Terwilliger JD, Ott J. A haplotype-based "haplotype relative risk" approach to detecting allelic associations. Hum Hered 1992;42:337-46.
50. Comings DE, Muhleman D, Dietz G, Dino M, LeGro R, Gade R. Association between Tourette's syndrome and homozygosity at the dopamine D3 receptor gene [letter]. Lancet 1993;341:906.
51. Brett P, Robertson M, Gurling H, Curtis D. Failure to find linkage and increased homozygosity for the dopamine D3 receptor gene in Tourette's syndrome [letter]. Lancet 1993;341:1225.
52. Hebebrand J, Nothen MM, Lehmkuhl G, Poustka F, Schmidt M, Propping P, and others. Tourette's syndrome and homozygosity for the dopamine D3 receptor gene. German Tourette's syndrome collaborative research group [letter]. Lancet 1993;341:1483-4.
53. Grice DE, Leckman JF, Pauls DL, Kurlan R, Kidd KK, Pakstis AJ, and others. Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome by the transmission-disequilibrium test. Am J Hum Genet 1996;59:644-52.
54. Lichter JB, Barr CL, Kennedy JL, Van Toi HH, Kidd KK, Livak KJ. A hypervariable segment in the human dopamine receptor D4 (DRD4) gene. Hum Mol Genet 1993;2:767-73.
55. Chang FM, Kidd JR, Livak KJ, Pakstis AJ, Kidd KK. The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus. Hum Genet 1996;98:91-101.
56. Barr CL, Wigg KG, Zovko E, Sandor P, Tsui LC. No evidence for a major gene effect of the dopamine D4 receptor gene in the susceptibility to Gilles de la Tourette syndrome in five Canadian families. Am J Med Genet 1996;67:301-5.
57. Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics l992;12:241-53.
58. Nothen MM, Cichon S, Hemmer S, Hebebrand J, Remschmidt H, Lehmkuhl G, and others. Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity. Hum Mol Genet 1994;3:2207-12.
59. Hebebrand J, Nothen MM, Ziegler A, Klug B, Neidt H, Eggermann K, and others, Nonreplication of linkage disequilibrium between the dopamine D4 receptor locus and Tourette syndrome [letter]. Am J Hum Genet 1997;61:238-9.
60. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-16.
61. Schaid DJ, Sommer SS. Comparison of statistics for candidate-gene association studies using cases and parents. Am J Hum Genet 1994;55:402-9.
62. Ebstein RP, Novick O, Umansky R, Priel B, Osher Y, Blaine D, and others. Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of novelty seeking. Nat Genet 1996; 12:78-80.
63. Benjamin J, Li L, Patterson C, Greenberg BD, Murphy DL, Hamer DH. Population and familial association between the D4 dopamine receptor gene and measures of novelty seeking. Nat Genet 1996; 12:81-4.
64. Jonsson EG, Nothen MM, Gustavsson JP, Neidt H, Brene S, Tylec A, and others. Lack of evidence for allelic association between personality traits and the dopamine D4 receptor gene polymorphisms. Am J Psychiatry 1997; 154:697-9.
65. LaHoste GJ, Swanson JM, Wigal SB, Glabe C, Wigal T, King N, and others. Dopamine D4 receptor gene polymorphism is associated with attention deficit hyperactivity disorder Mol Psychiatry 1996;1: 121-4.
66. Barr CL, Wigg KG, Zovko E, Sandor P, Tsui LC Linkage study of the dopamine D5 receptor gene and Gilles de la Tourette syndrome. Am J Med Genet 1997;74:58-61.
67. Comings DE, Gade R, Muhleman D, Sverd J. No association of a tyrosine hydroxylase gene tetranucleotide repeat polymorphism in autism, Tourette syndrome, or ADHD. Biol Psychiatry 1995;37:484-6.
68. Gelernter J, Kennedy JL, Grandy DK, Zhou QY, Civelli O, Pauls DL, and others. Exclusion of close linkage of Tourette's syndrome to D1 dopamine receptor Am J Psychiatry 1993;150:449-53.
69. Comings DE, Wu S, Chiu C, Ring RH, Gade R, Ahn C, and others. Polygenic inheritance of Tourette syndrome, stuttering, attention deficit hyperactivity, conduct, and oppositional defiant disorder: the additive and subtractive effect of the three dopaminergic genes - DRD2, D beta H, and DAT1. Am J Med Genet 1996;67:264-88.
70. Gelernter J, Vandenbergh D, Kniger SD, Pauls DL, Kurlan R, Pakstis AJ, and others. The dopamine transporter protein gene (SLC6A3): primary linkage mapping and linkage studies in Tourette syndrome. Genomics 1995;30:459-63.
71. Gelernter J, Rao PA, Pauls DL, Hamblin MW, Sibley DR, Kidd KK. Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with Tourette syndrome. Genomics 1995;26:207-9.
72. Brett PM, Curtis D, Robertson MM, Gurling HM. Exclusion of the 5-HT1A serotonin neuroreceptor and tryptophan oxygenase genes in a large British kindred multiply affected with Tourette's syndrome, chronic motor tics, and obsessive-compulsive behavior, Am J Psychiatry 1995; 152:437-40.
73. Clerget-Darpoux F, Bonaiti-Pellie C, Hochez J. Effects of misspecifying genetic parameters in lod score analysis. Biometrics 1986;42:393-9.
74. Comings DE. Role of genetic factors in depression based on studies of Tourette syndrome and ADHD probands and their relatives. Am J Med Genet 1995;60:111-21.
75. Comings DE, Comings BG. Alternative hypotheses on the inheritance of Tourette syndrome. In: Chase TN, Friedhoff AJ, Cohen DJ, editors. Advances in neurology. New York: Raven Press; 1992. p 189-99.
76. Knell ER, Comings DE. Tourette's syndrome and attention-deficit hyperactivity disorder: evidence for a genetic relationship. J Clin Psychiatry 1993;54:331-7.
77. Pauls DL, Leckman JF, Cohen DJ. Evidence against a genetic relationship between Tourette's syndrome and anxiety, depression, panic and phobic disorders. Br J Psychiatry 1994; 164:215-21.
78. Comings DE. Tourette's syndrome and psychiatric disorders [letter]. Br J Psychiatry 1995; 166:399.
79. Pauls DL, Cohen DJ, Kidd KK, Leckman JF. Tourette syndrome and neuropsychiatric disorders: is there a genetic relationship? Am J Hum Genet 1988;43:206-17.
80. Pauls DL, Leckman JF, Cohen DJ. Familial relationship between Gilles de la Tourette's syndrome, attention deficit disorder, learning disabilities, speech disorders, and stuttering. J Am Acad Child Adolesc Psychiatry 1993;32:1044-50.
81. Hollander E, Benzaquen SD. Is there a distinct OCD spectrum? CNS Spectrums 1996;1:17-26.
82. Greenberg DA, There is more than one way to collect data for linkage analysis. What a study of epilepsy can tell us about linkage strategy for psychiatric disease. Arch Gen Psychiatry 1992;49:745-50.
83. Egeland JA, Gerhard DS, Pauls DL, Sussex JN, Kidd KK, Allen CR, and others. Bipolar affective disorders linked to DNA markers on chromosome 11, Nature 1987;325:783-7.
84. Kelsoe JR, Ginns EI, Egeland JA, Gerhard DS, Goldstein AM, Bale SJ, and others. Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature 1989;342:238-43.
85. Kurlan R. Hypothesis II: Tourette's syndrome is part of a clinical spectrum that includes normal brain development Arch Neurol 1994;51:1145-50.
86. Robins LN, Heizer JE, Weissman MM, Orvaschel H, Gruenberg E, Burke Jr JD, and others. Lifetime prevalence of specific psychiatric disorders in three sites. Arch Gen Psychiatry 1984;41:949-58.