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Tourette Syndrome(GTS)

MedGen UID:
21219
Concept ID:
C0040517
Mental or Behavioral Dysfunction
Synonyms: GTS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Tourette's syndrome (5158005); Tourette's disorder (5158005); Combined vocal and multiple motor tic disorder (5158005); Gilles de la Tourette syndrome (5158005); Gilles de la Tourettes syndrome (5158005); Gilles de la Tourette's syndrome (5158005)
 
Genes (locations): HDC (15q21.2); SLITRK1 (13q31.1)
OMIM®: 137580

Disease characteristics

Excerpted from the GeneReview: Tourette Disorder Overview
Tourette disorder (TD) is defined by the presence for more than a year of multiple motor tics and at least one vocal tic. Tics are sudden, rapid, recurrent, nonrhythmic, stereotyped motor movements or vocalizations. Individuals with either vocal or motor tics (but not both) for more than a year are given diagnoses of chronic vocal tics (CVT) or chronic motor tics (CMT), respectively. The onset of Tourette disorder is in early childhood with symptoms typically peaking before puberty and showing marked improvement by adulthood. Tourette disorder often co-occurs with other neuropsychiatric disorders, most notably attention deficit hyperactivity disorder (ADHD) and/or obsessive-compulsive disorder (OCD), and it is often these co-occurring, or comorbid conditions that bring affected individuals to medical attention.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes of Tourette Disorder  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Althea Stillman  |  A Gulhan Ercan-Sencicek  |  Matthew W State   view full author information

Additional descriptions

From OMIM
Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. By age 18 years, more than half of affected individuals are free of tics, but they may persist into adulthood (review by Jankovic, 2001).  http://www.omim.org/entry/137580
From GHR
Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. Tourette syndrome involves both motor tics, which are uncontrolled body movements, and vocal or phonic tics, which are outbursts of sound. Some motor tics are simple and involve only one muscle group. Simple motor tics, such as rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first signs of Tourette syndrome. Motor tics also can be complex (involving multiple muscle groups), such as jumping, kicking, hopping, or spinning. Vocal tics, which generally appear later than motor tics, also can be simple or complex. Simple vocal tics include grunting, sniffing, and throat-clearing. More complex vocalizations include repeating the words of others (echolalia) or repeating one's own words (palilalia). The involuntary use of inappropriate or obscene language (coprolalia) is possible, but uncommon, among people with Tourette syndrome. In addition to frequent tics, people with Tourette syndrome are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep.  http://ghr.nlm.nih.gov/condition/tourette-syndrome

Clinical features

Self-mutilation
MedGen UID:
378383
Concept ID:
C2242914
Finding
Aggressive behavior
MedGen UID:
504570
Concept ID:
CN000675
Finding
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Obsessive-compulsive behavior
MedGen UID:
504572
Concept ID:
CN000679
Finding
Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
Sleep disturbance
MedGen UID:
505212
Concept ID:
CN002143
Finding
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Echolalia
MedGen UID:
506374
Concept ID:
CN009360
Finding
The tendency to repeat vocalizations made by another person.
Motor tics
MedGen UID:
506450
Concept ID:
CN116932
Finding
Movement-based tics affecting discrete muscle groups.
Phonic tics
MedGen UID:
506451
Concept ID:
CN116933
Finding
Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.

Term Hierarchy

Recent clinical studies

Etiology

Stewart SB, Greene DJ, Lessov-Schlaggar CN, Church JA, Schlaggar BL
J Pediatr 2015 May;166(5):1297-1302.e3. Epub 2015 Mar 11 doi: 10.1016/j.jpeds.2015.01.041. [Epub ahead of print] PMID: 25769235Free PMC Article
Hirschtritt ME, Lee PC, Pauls DL, Dion Y, Grados MA, Illmann C, King RA, Sandor P, McMahon WM, Lyon GJ, Cath DC, Kurlan R, Robertson MM, Osiecki L, Scharf JM, Mathews CA; Tourette Syndrome Association International Consortium for Genetics
JAMA Psychiatry 2015 Apr;72(4):325-33. doi: 10.1001/jamapsychiatry.2014.2650. PMID: 25671412Free PMC Article
Ghosh D, Rajan PV, Das D, Datta P, Rothner AD, Erenberg G
Pediatr Neurol 2014 Jul;51(1):31-5. Epub 2014 Mar 27 doi: 10.1016/j.pediatrneurol.2014.03.017. [Epub ahead of print] PMID: 24938137
Termine C, Luoni C, Selvini C, Bandera V, Balottin U, Eddy CM, Cavanna AE
J Child Neurol 2014 Jan;29(1):79-83. Epub 2013 Jan 9 doi: 10.1177/0883073812470003. [Epub ahead of print] PMID: 23307882
Bitsko RH, Danielson M, King M, Visser SN, Scahill L, Perou R
J Child Neurol 2013 Dec;28(12):1626-36. Epub 2012 Nov 8 doi: 10.1177/0883073812465121. [Epub ahead of print] PMID: 23143730Free PMC Article

Diagnosis

Stewart SB, Greene DJ, Lessov-Schlaggar CN, Church JA, Schlaggar BL
J Pediatr 2015 May;166(5):1297-1302.e3. Epub 2015 Mar 11 doi: 10.1016/j.jpeds.2015.01.041. [Epub ahead of print] PMID: 25769235Free PMC Article
Hirschtritt ME, Lee PC, Pauls DL, Dion Y, Grados MA, Illmann C, King RA, Sandor P, McMahon WM, Lyon GJ, Cath DC, Kurlan R, Robertson MM, Osiecki L, Scharf JM, Mathews CA; Tourette Syndrome Association International Consortium for Genetics
JAMA Psychiatry 2015 Apr;72(4):325-33. doi: 10.1001/jamapsychiatry.2014.2650. PMID: 25671412Free PMC Article
Worbe Y, Marrakchi-Kacem L, Lecomte S, Valabregue R, Poupon F, Guevara P, Tucholka A, Mangin JF, Vidailhet M, Lehericy S, Hartmann A, Poupon C
Brain 2015 Feb;138(Pt 2):472-82. Epub 2014 Nov 11 doi: 10.1093/brain/awu311. [Epub ahead of print] PMID: 25392196
Shaw ZA, Coffey BJ
Psychiatr Clin North Am 2014 Sep;37(3):269-86. doi: 10.1016/j.psc.2014.05.001. PMID: 25150562
Bitsko RH, Holbrook JR, Visser SN, Mink JW, Zinner SH, Ghandour RM, Blumberg SJ
J Dev Behav Pediatr 2014 Jun;35(5):317-22. doi: 10.1097/DBP.0000000000000065. PMID: 24906033Free PMC Article

Therapy

Reese HE, Vallejo Z, Rasmussen J, Crowe K, Rosenfield E, Wilhelm S
J Psychosom Res 2015 Mar;78(3):293-8. Epub 2014 Aug 10 doi: 10.1016/j.jpsychores.2014.08.001. [Epub ahead of print] PMID: 25149879
Shaw ZA, Coffey BJ
Psychiatr Clin North Am 2014 Sep;37(3):269-86. doi: 10.1016/j.psc.2014.05.001. PMID: 25150562
Shprecher DR, Schrock L, Himle M
Curr Opin Neurol 2014 Aug;27(4):484-92. doi: 10.1097/WCO.0000000000000119. PMID: 24978639
Egolf A, Coffey BJ
Drugs Today (Barc) 2014 Feb;50(2):159-79. doi: 10.1358/dot.2014.50.2.2097801. PMID: 24619591
Termine C, Luoni C, Selvini C, Bandera V, Balottin U, Eddy CM, Cavanna AE
J Child Neurol 2014 Jan;29(1):79-83. Epub 2013 Jan 9 doi: 10.1177/0883073812470003. [Epub ahead of print] PMID: 23307882

Prognosis

Reese HE, Vallejo Z, Rasmussen J, Crowe K, Rosenfield E, Wilhelm S
J Psychosom Res 2015 Mar;78(3):293-8. Epub 2014 Aug 10 doi: 10.1016/j.jpsychores.2014.08.001. [Epub ahead of print] PMID: 25149879
Shprecher DR, Schrock L, Himle M
Curr Opin Neurol 2014 Aug;27(4):484-92. doi: 10.1097/WCO.0000000000000119. PMID: 24978639
Tu YF, Lin CL, Lin CH, Huang CC, Sung FC, Kao CH
Seizure 2014 Sep;23(8):651-6. Epub 2014 May 19 doi: 10.1016/j.seizure.2014.05.005. [Epub ahead of print] PMID: 24907027
Jeon S, Walkup JT, Woods DW, Peterson A, Piacentini J, Wilhelm S, Katsovich L, McGuire JF, Dziura J, Scahill L
Contemp Clin Trials 2013 Nov;36(2):414-20. Epub 2013 Aug 31 doi: 10.1016/j.cct.2013.08.012. [Epub ahead of print] PMID: 24001701Free PMC Article
Steinberg T, Shmuel-Baruch S, Horesh N, Apter A
Compr Psychiatry 2013 Jul;54(5):467-73. Epub 2012 Dec 6 doi: 10.1016/j.comppsych.2012.10.015. [Epub ahead of print] PMID: 23219489

Clinical prediction guides

Zhang JG, Ge Y, Stead M, Zhang K, Yan SS, Hu W, Meng FG
Mayo Clin Proc 2014 Nov;89(11):1506-14. Epub 2014 Nov 3 doi: 10.1016/j.mayocp.2014.05.019. [Epub ahead of print] PMID: 25444487
Shprecher DR, Schrock L, Himle M
Curr Opin Neurol 2014 Aug;27(4):484-92. doi: 10.1097/WCO.0000000000000119. PMID: 24978639
Ghosh D, Rajan PV, Das D, Datta P, Rothner AD, Erenberg G
Pediatr Neurol 2014 Jul;51(1):31-5. Epub 2014 Mar 27 doi: 10.1016/j.pediatrneurol.2014.03.017. [Epub ahead of print] PMID: 24938137
Termine C, Luoni C, Selvini C, Bandera V, Balottin U, Eddy CM, Cavanna AE
J Child Neurol 2014 Jan;29(1):79-83. Epub 2013 Jan 9 doi: 10.1177/0883073812470003. [Epub ahead of print] PMID: 23307882
Cavanna AE, Luoni C, Selvini C, Blangiardo R, Eddy CM, Silvestri PR, Cali' PV, Gagliardi E, Balottin U, Cardona F, Rizzo R, Termine C
J Child Neurol 2013 Oct;28(10):1305-8. Epub 2012 Sep 4 doi: 10.1177/0883073812457462. [Epub ahead of print] PMID: 22952315Free PMC Article

Recent systematic reviews

Paschou P, Yu D, Gerber G, Evans P, Tsetsos F, Davis LK, Karagiannidis I, Chaponis J, Gamazon E, Mueller-Vahl K, Stuhrmann M, Schloegelhofer M, Stamenkovic M, Hebebrand J, Noethen M, Nagy P, Barta C, Tarnok Z, Rizzo R, Depienne C, Worbe Y, Hartmann A, Cath DC, Budman CL, Sandor P, Barr C, Wolanczyk T, Singer H, Chou IC, Grados M, Posthuma D, Rouleau GA, Aschauer H, Freimer NB, Pauls DL, Cox NJ, Mathews CA, Scharf JM
Ann Neurol 2014 Aug;76(2):310-5. Epub 2014 Jul 21 doi: 10.1002/ana.24215. [Epub ahead of print] PMID: 25042818Free PMC Article
Chao TK, Hu J, Pringsheim T
BMC Pregnancy Childbirth 2014 Jan 30;14:53. doi: 10.1186/1471-2393-14-53. [Epub ahead of print] PMID: 24479407Free PMC Article
McGuire JF, Piacentini J, Brennan EA, Lewin AB, Murphy TK, Small BJ, Storch EA
J Psychiatr Res 2014 Mar;50:106-12. Epub 2013 Dec 28 doi: 10.1016/j.jpsychires.2013.12.009. [Epub ahead of print] PMID: 24398255
Macrì S, Proietti Onori M, Laviola G
Neurosci Biobehav Rev 2013 Jul;37(6):1085-100. Epub 2013 Apr 9 doi: 10.1016/j.neubiorev.2013.03.014. [Epub ahead of print] PMID: 23583771
Eichele H, Plessen KJ
Behav Neurol 2013;27(1):33-45. doi: 10.3233/BEN-120294. PMID: 23187150

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