Tourette's Syndrome

1. TOURETTE’S SYNDROME
Ade Wijaya, MD
November 2017

2. OUTLINE:
• Introduction
• Epidemiology
• Genetics
• Pathophysiology
• Clinical manifestation
• Treatment
• Summary

3. INTRODUCTION
Gilles de la Tourette’s syndrome or Tourette disorder
Characterized by chronic motor and phonic tics
Neuropsychiatric spectrum disorder, associated with ADHD (55.6 %)
and/or OCD (54,9 %)
Can be disabling, painful, self-injurious, and life-threathening
Social impacts
Kurlan, R. M. (2014). Treatment of Tourette Syndrome. Neurotherapeutics,11(1), 161–165. http://doi.org/10.1007/s13311-013-0215-4
Cheung M-YC, Shahed J, Jankovic J. Malignant Tourette syndrome. Movement Disord.2007;22(12):1743–50. doi: 10.1002/mds.21599
Bagheri MM, Kerbeshian J, Burd L. Recognition and management of Tourette’s syndrome and tic disorders. Am Fam Physician. 1999;59:2263–72. 74.
Robertson MM. The Gilles de la Tourette syndrome: the current status. Arc Dis Child Educ Pract Ed.2012;97:166–75

4. EPIDEMIOLOGY
• Childhood-onset (mean 6,4 years of age)
• 1 % of school-age children
• Male to female ratio is 4.4 to 1
• A family history is present in 51.7% of patients
Bagheri MM, Kerbeshian J, Burd L. Recognition and management of Tourette’s syndrome and tic disorders. Am Fam Physician. 1999;59:2263–72. 74.
Robertson MM. The Gilles de la Tourette syndrome: the current status. Arc Dis Child Educ Pract Ed.2012;97:166–75
Cheung M-YC, Shahed J, Jankovic J. Malignant Tourette syndrome. Movement Disord.2007;22(12):1743–50. doi: 10.1002/mds.21599

5. EPIDEMIOLOGY
Tics and Tourette syndrome. In Fahn S, Jankovic J, Hallett M.
Principles and Prcatice of Movement Disorders. 2nd Edition. p.
350-79

6. GENETICS
• Complex and multifactorial
• rs7868992 on chromosome 9q32 within the gene COL27A1
• A mutation in the gene leading to histidine decarboxylase deficiency
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, et al. Genome-wide association study of Tourette’s syndrome. Mol Psychiatry. 2013;18:721–8.
Castellan Baldan L, Williams KA, Gallezot JD, Pogorelov V, Rapanelli M, Crowley M, et al. Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice. Neuron.2014;81:77–90.
Tics and Tourette syndrome. In Fahn S, Jankovic J, Hallett M. Principles and Prcatice of Movement Disorders. 2nd Edition. p. 350-79

7. PATHOPHYSIOLOGY
• Impairment of cortical inhibition of motor programs that are
spontaneously generated in the basal ganglia and expressed as tics
• Neurotransmitters
Kurlan, R. M. (2014). Treatment of Tourette Syndrome. Neurotherapeutics,11(1), 161–165. http://doi.org/10.1007/s13311-013-0215-4
Orth M, Münchau A, Rothwell JC. Corticospinal system excitability at rest is associated with tic severity in Tourette syndrome. Biol Psychiat. 2008;64(3):248–51. doi: 10.1016/j.biopsych.2007.12.009
Hallett, M. (2015). Tourette syndrome: update. Brain and Development, 37(7), 651-655.

8. CLINICAL MANIFESTATION
• Simple or complex motor tics
• Vocalizations
• Sensory tic
Kurlan, R. M. (2014). Treatment of Tourette Syndrome. Neurotherapeutics,11(1), 161–165. http://doi.org/10.1007/s13311-013-0215-4
Hallett, M. (2015). Tourette syndrome: update. Brain and Development, 37(7), 651-655.

9. TREATMENT
Non-Pharmacological
• CBT
• Botox injection
• DBS surgery
Pharmacological
• Antipsychotic medications
• Alpha agonist
• Others
Kurlan, R. M. (2014). Treatment of Tourette Syndrome. Neurotherapeutics,11(1), 161–165. http://doi.org/10.1007/s13311-013-0215-4

10. TREATMENT (PHARMACOTHERAPY)
Kurlan, R. M. (2014). Treatment of Tourette Syndrome. Neurotherapeutics,11(1), 161–165. http://doi.org/10.1007/s13311-013-0215-4

11. SUMMARY
• Chronic and phonic tics
• Associated with ADHD and OCD
• Medical and social impacts
• Impairment of cortical inhibition of motor programs
• Medications and CBT

12. THANK YOU