Síndrome de Tourette

aspectos genéticos atuais

Autores

  • Débora Marques de Miranda Médica pediatra, doutora em Farmacologia Bioquímica e Molecular, pós-doutoranda do Departamento de Farmacologia da Universidade de Minas Gerais, Belo Horizonte, Minas Gerais
  • Marco Aurélio Romano Silva Médico Psiquiatra, Doutor em Bioquímica, Livre-docente em Psiquiatra, Professor Associado do Departamento de Saúde Mental da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais
  • Antônio Lúcio Teixeira Médico Psiquiatra e Neurologista, Doutor em Biologia Celular, Professor doutor do Departamento de Clínica Médica da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais

DOI:

https://doi.org/10.34024/rnc.2007.v15.8735

Palavras-chave:

Síndrome de Tourette, Genética, Tiques

Resumo

A Síndrome de Gilles de la Tourette (ST) é uma entidade neuropsiquiátrica caracterizada pela presença de tics e com importante componente hereditário. Muitos grupos vem estudando os aspectos genéticos da ST, mas frequentemente os achados não se sustentam em estudos subsequentes e fica clara toda a dificuldade em estabelecer os genes relacionados com a ST. Entretanto, no último ano foi publicado estudo que correlaciona mutação no gene da Slit and Trk-like family member 1 (SLITRK1) com a presença ST em um pequeno grupo de pacientes. Esse gene codifica a proteína SLITRK1 que é homóloga às proteínas SLIT e o receptor de tirosina cinase (TRK). A família das proteínas SLIT estão envolvidos no direcionamento axonal durante o cruzamento da linha média na medula vertebral. Enquanto o receptor de TRK acelera a diferenciação induzida pelo fator de crescimento neuronal. A SLITRK aparentemente está envolvida no crescimento de dendritos e axônios. Faltam estudos que avaliem a presença de mutações no gene da SLITRK1 em outras populações, assim como que avaliem a possibilidade de alteração de outros genes dessa via de sinalização. Entretanto, caso se confirmem as alterações no gene da SLITRK1, ou de genes correlacionados, o entendimento e o estudo de ST passará a envolver o direcionamento axonal e especialmente as proteínas da via SLITRK-SLIT-ROBO.

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Referências

Singer HS, Hong JJ, Yoon DY, Williams PN. Serum autoantibodies do not differentiate PANDAS and Tourette syndrome from controls. Neurology 2005; 65(11): 1701-1707.

Rampello L, Alvano A, Battaglia G, Bruno V, Raffaele R, Nicoletti F. Tic disorders: from pathophysiology to treatment. J Neurol 2006; 253(1):1-15.

Diniz JB, Rosario-Campos MC, Hounie AG, Curi M, Shavitt RG, Lopes AC, et al. Chronic tics and Tourette syndrome in patients with obsessive-compulsive disorder. J Psychiatr Res 2006;40(6):487-493.

Termine C, Balottin U, Rossi G, Maisano F, Salini S, Di Nardo R, et al. Psychopathology in children and adolescents with Tourette’s syndrome: a controlled study. Brain Dev 2006; 28(2):69-75.

Albin RL, Mink JW. Recent advances in Tourette syndrome research. Trends Neurosci 2006; 29(3):175-182.

Leckman JF, Zhang H, Vitale A, Lahnin F, Lynch K, Bondi C, et al. Course of tic severity in Tourette syndrome: the first two decades. Pediatrics 1998; 102:14-19.

Pappert EJ, Goetz CG, Louis ED, Blasucci L, Leurgans S. Objective assessments of longitudinal outcome in Gilles de la Tourette’s syndrome. Neurology 2003;61(7):936-940.

Erenberg G, Cruse RP, Rothner AD. The natural history of Tourette syndrome: a follow-up study. Ann Neurol 1987; 22(3):383-385.

Saccomani L, Fabiana V, Manuela B, Giambattista R. Tourette syndrome and chronic tics in a sample of children and adolescents. Brain Dev 2005; 27(5):349-352.

Stern E, Silbersweig DA, Chee KY, Holmes A, Robertson MM, Trimble M, et al. A functional neuroanatomy of tics in Tourette syndrome. Arch Gen Psychiatry 2000; 57(8):741-748.

Muller-Vahl KR, Meyer GJ, Knapp WH, Emrich HM, Gielow P, Brucke T, et al. Serotonin transporter binding in Tourette Syndrome. Neurosci Lett 2005; 385(2):120-125.

Bloch MH, Peterson BS, Scahill L, Otka J, Katsovich L, Zhang H, et al. Adulthood outcome of tic and obsessive-compulsive symptom severity in children with Tourette syndrome. Arch Pediatr Adolesc Med 2006; 160(1):65-69.

Kwak C, Vuong KD, Jankovic J. Migraine headache in patients with Tourette syndrome. Arch Neurol 2003; 60(11):1595-1598.

Swedo SE, Leonard HL, Kiessling LS. Speculations on antineuronal antibody-mediated neuropsychiatric disorders of childhood. Pediatrics 1994; 93(2):323-326.

Swedo SE, Leonard HL, Rapoport JL. The pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) subgroup: separating fact from fiction. Pediatrics 2004;113(4):907-911.

Singer HS. Discussing outcome in Tourette syndrome. Arch Pediatr Adolesc Med 2006; 160(1):103-105.

Burd L, Severud R, Klug MG, Kerbeshian J. Prenatal and perinatal risk factors for Tourette disorder. J Perinat Med 1999; 27(4):295-302.

Khalifa N, von Knorring AL. Tourette syndrome and other tic disorders in a total population of children: clinical assessment and background. Acta Paediatr 2005; 94(11):1608-1614.

Pauls DL. An update on the genetics of Gilles de la Tourette syndrome. J Psychosom Res 2003; 55(1):7-12.

Paschou P, Feng Y, Pakstis AJ, Speed WC, DeMille MM, Kidd JR, et al. Indications of linkage and association of Gilles de la Tourette syndrome in two independent family samples: 17q25 is a putative susceptibility region. Am J Hum Genet 2004; 75(4):545-560.

Diaz-Anzaldua A, Riviere JB, Dube MP, Joober R, Saint-Onge J, Dion Y, et al. Chromosome 11-q24 region in Tourette syndrome: association and linkage disequilibrium study in the French Canadian population. Am J Med Genet A 2005;138(3):225-228

Barr CL, Sandor P. Current status of genetic studies of Gilles de la Tourette syndrome. Can J Psychiatry 1998; 43(4):351-357.

Lee CC, Chou IC, Tsai CH, Wang TR, Li TC, Tsai FJ. Dopamine receptor D2 gene polymorphisms are associated in Taiwanese children with Tourette syndrome. Pediatr Neurol 2005; 33(4):272-276.

Swedo SE, Leonard HL, Garvey M, Mittleman B, Allen AJ, Perlmutter S, et al. Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections: clinical description of the first 50 cases. Am J Psychiatry 1998; 155(2):264-271.

Kirvan CA, Swedo SE, Heuser JS, Cunningham MW. Mimicry and autoantibody-mediated neuronal cell signaling in Sydenham chorea. Nat Med 2003; 9(7):914-920.

Comings DE, Gursey BT, Hecht T, Blume K. HLA typing in Tourette syndrome. Adv Neurol 1982;35:251-253.

Caine ED, Weitkamp LR, Chiverton P, Guttormsen S, Yagnow R, Hempfling S, et al. Tourette syndrome and HLA. J Neurol Sci 1985; 69(3):201-206

Grados MA, Walkup J, Walford S. Genetics of obsessive-compulsive disorders: new findings and challenges. Brain Dev. 2003; 25 (Suppl 1):S55-S61.

Hemmings SM, Kinnear CJ, Niehaus DJ, Moolman-Smook JC, Lochner C, Knowles JA, et al. Investigating the role of dopaminergic and serotonergic candidate genes in obsessive-compulsive disorder. Eur Neuropsychopharmacol 2003; 13(2):93-98.

Hall D, Dhilla A, Charalambous A, Gogos JA, Karayiorgou M. Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive compulsive disorder. Am J Hum Genet 2003;73:370-376.

Klaffke S, Konig IR, Poustka F, Ziegler A, Hebebrand J, Bandmann O. Brainderived neurotrophic factor: A genetic risk factor for obsessive-compulsive disorder and Tourette syndrome? Mov Disord 2006;21(6):881-883.

Barr CL, Wigg KG, Pakstis AJ, Kurlan R, Pauls D, Kidd KK, et al. Genome scan for linkage to Gilles de la Tourette syndrome. Am J Med Genet1999; 88(4):437-445

The Tourette Syndrome Association International Consortium for Genetics. A complete genome screen in sib pairs affected by Gilles de la Tourette syndrome. Am J Hum Genet 1999; 65(5):1428-1436.

Abelson JF, Kwan KY, O’Roak BJ, Baek DY, Stillman AA, Morgan TM, et al. Sequence variants in SLITRK1 are associated with Tourette’s syndrome. Science 2005;14(5746):317-320.

Kidd T, Bland KS, Goodman CS. Slit is the midline repellent for the robo receptor in Drosophila Cell 1999; 96(6): 785-794.

Brose K, Bland KS, Wang KH, Arnott D, Henzel W, Goodman CS, et al. Slit proteins bind Robo receptors and have an evolutionarily conserved role in repulsive axon guidance. Cell 1999;96(6):795-806.

Huminiecki L, Gorn M, Suchting S, Poulsom R, Bicknell R. Magic roundabout is a new member of the roundabout receptor family that is endothelial specific and expressed at sites of active angiogenesis. Genomics 2002; 79(4):547-552

Grados MA, Walkup JT. A new gene for Tourette’s syndrome: a window into causal mechanisms? Trends Genet 2006; 22(6):291-293.

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Publicado

2007-03-31

Como Citar

Miranda, D. M. de, Silva, M. A. R., & Teixeira, A. L. (2007). Síndrome de Tourette: aspectos genéticos atuais. Revista Neurociências, 15(1), 84–87. https://doi.org/10.34024/rnc.2007.v15.8735

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Recebido: 2019-02-08
Publicado: 2007-03-31

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