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Tourette Syndrome(GTS)

MedGen UID:
21219
Concept ID:
C0040517
Mental or Behavioral Dysfunction
Synonyms: Chronic Motor and Vocal Tic Disorder; Gilles de la Tourette Syndrome; Gilles de la Tourette's syndrome; GTS; Tourette Disorder; Tourette's Disease
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: SLITRK1; HDC
Cytogenetic locations: 13q31.1; 15q21.2
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

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.
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

Nagai Y, Cavanna AE, Critchley HD, Stern JJ, Robertson MM, Joyce EM
Cogn Behav Neurol 2014 Mar;27(1):17-24. doi: 10.1097/WNN.0000000000000019. PMID: 24674962
Morris-Berry CM, Pollard M, Gao S, Thompson C; Tourette Syndrome Study Group, Singer HS
J Neuroimmunol 2013 Nov 15;264(1-2):106-13. Epub 2013 Sep 18 doi: 10.1016/j.jneuroim.2013.09.010. [Epub ahead of print] PMID: 24080310
Rizzo R, Gulisano M, Calì PV, Curatolo P
Eur J Paediatr Neurol 2013 Sep;17(5):421-8. Epub 2013 Mar 7 doi: 10.1016/j.ejpn.2013.01.005. [Epub ahead of print] PMID: 23473832
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: 23143730
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: 22952315

Diagnosis

Egolf A, Coffey BJ
Drugs Today (Barc) 2014 Feb;50(2):159-79. doi: 10.1358/dot.2014.50.2.2097801. PMID: 24619591
Zebardast N, Crowley MJ, Bloch MH, Mayes LC, Wyk BV, Leckman JF, Pelphrey KA, Swain JE
Psychiatry Res 2013 Oct 30;214(1):33-41. Epub 2013 Jul 31 doi: 10.1016/j.pscychresns.2013.05.009. [Epub ahead of print] PMID: 23916249Free PMC Article
Cavanna AE, Luoni C, Selvini C, Blangiardo R, Eddy CM, Silvestri PR, Calì PV, Seri S, Balottin U, Cardona F, Rizzo R, Termine C
Behav Neurol 2013;27(1):95-103. doi: 10.3233/BEN-120274. PMID: 23598902
Cavanna AE, Luoni C, Selvini C, Blangiardo R, Eddy CM, Silvestri PR, Calì PV, Gagliardi E, Balottin U, Cardona F, Rizzo R, Termine C
Pediatr Neurol 2013 Feb;48(2):111-4. doi: 10.1016/j.pediatrneurol.2012.10.006. PMID: 23337003
Wilhelm S, Peterson AL, Piacentini J, Woods DW, Deckersbach T, Sukhodolsky DG, Chang S, Liu H, Dziura J, Walkup JT, Scahill L
Arch Gen Psychiatry 2012 Aug;69(8):795-803. doi: 10.1001/archgenpsychiatry.2011.1528. PMID: 22868933Free PMC Article

Therapy

Nagai Y, Cavanna AE, Critchley HD, Stern JJ, Robertson MM, Joyce EM
Cogn Behav Neurol 2014 Mar;27(1):17-24. doi: 10.1097/WNN.0000000000000019. PMID: 24674962
Egolf A, Coffey BJ
Drugs Today (Barc) 2014 Feb;50(2):159-79. doi: 10.1358/dot.2014.50.2.2097801. PMID: 24619591
Kim W, Pouratian N
Neurosurg Clin N Am 2014 Jan;25(1):117-35. Epub 2013 Oct 8 doi: 10.1016/j.nec.2013.08.009. [Epub ahead of print] PMID: 24262904
Rizzo R, Gulisano M, Calì PV, Curatolo P
Eur J Paediatr Neurol 2013 Sep;17(5):421-8. Epub 2013 Mar 7 doi: 10.1016/j.ejpn.2013.01.005. [Epub ahead of print] PMID: 23473832
Ackermans L, Kuhn J, Neuner I, Temel Y, Visser-Vandewalle V
World Neurosurg 2013 Sep-Oct;80(3-4):S29.e15-22. Epub 2012 Jun 19 doi: 10.1016/j.wneu.2012.06.017. [Epub ahead of print] PMID: 22722039

Prognosis

Rizzo R, Gulisano M
Int Rev Neurobiol 2013;112:415-44. doi: 10.1016/B978-0-12-411546-0.00014-7. PMID: 24295629
Eddy CM, Cavanna AE
J Psychiatr Res 2013 Sep;47(9):1259-63. Epub 2013 Jun 13 doi: 10.1016/j.jpsychires.2013.05.019. [Epub ahead of print] PMID: 23768869
Chou IC, Lin HC, Lin CC, Sung FC, Kao CH
J Dev Behav Pediatr 2013 Apr;34(3):181-5. doi: 10.1097/DBP.0b013e3182829f2b. PMID: 23572168
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
Egan CA, Marakovitz SE, O'Rourke JA, Osiecki L, Illmann C, Barton L, McLaughlin E, Proujansky R, Royal J, Cowley H, Rangel-Lugo M, Pauls DL, Scharf JM, Mathews CA; Tourette Syndrome Association International Consortium for Genetics
Am J Med Genet B Neuropsychiatr Genet 2012 Dec;159B(8):987-96. Epub 2012 Oct 22 doi: 10.1002/ajmg.b.32107. [Epub ahead of print] PMID: 23090870Free PMC Article

Clinical prediction guides

Nagai Y, Cavanna AE, Critchley HD, Stern JJ, Robertson MM, Joyce EM
Cogn Behav Neurol 2014 Mar;27(1):17-24. doi: 10.1097/WNN.0000000000000019. PMID: 24674962
Miller LL, Scharf JM, Mathews CA, Ben-Shlomo Y
Dev Med Child Neurol 2014 Feb;56(2):157-63. Epub 2013 Oct 19 doi: 10.1111/dmcn.12318. [Epub ahead of print] PMID: 24138188Free PMC Article
Zebardast N, Crowley MJ, Bloch MH, Mayes LC, Wyk BV, Leckman JF, Pelphrey KA, Swain JE
Psychiatry Res 2013 Oct 30;214(1):33-41. Epub 2013 Jul 31 doi: 10.1016/j.pscychresns.2013.05.009. [Epub ahead of print] PMID: 23916249Free PMC Article
Cavanna AE, Luoni C, Selvini C, Blangiardo R, Eddy CM, Silvestri PR, Calì PV, Gagliardi E, Balottin U, Cardona F, Rizzo R, Termine C
Pediatr Neurol 2013 Feb;48(2):111-4. doi: 10.1016/j.pediatrneurol.2012.10.006. PMID: 23337003
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: 22952315

Recent systematic reviews

Dutta N, Cavanna AE
Funct Neurol 2013 Jan-Mar;28(1):7-12. PMID: 23731910Free PMC Article
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
Rajagopal S, Seri And S, Cavanna AE
Behav Neurol 2013;27(1):65-73. doi: 10.3233/BEN-120308. PMID: 23187151
Eichele H, Plessen KJ
Behav Neurol 2013;27(1):33-45. doi: 10.3233/BEN-120294. PMID: 23187150
Cavanna AE, David K, Bandera V, Termine C, Balottin U, Schrag A, Selai C
Behav Neurol 2013;27(1):83-93. doi: 10.3233/BEN-120296. PMID: 23187148

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