Tourette syndrome is associated with recurrent exonic copy number variants

Sundaram, Senthilarasu; Huq, A.H.M. Mahbubul; Wilson, Benjamin J.; Chugani, Harry T.

doi:10.1212/wnl.0b013e3181e0f147

Cited by 121 publications

(121 citation statements)

References 21 publications

(21 reference statements)

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“…Yu and colleagues used polygenic risk scores to identify distinct differences between polygenic risk burden of OCD with and without co-occurring GTS/Chronic Tic Disorder 73 . Also noteworthy is the significant overlap of rare GTS CNVs in loci previously shown to harbour recurrent deletions/duplications in other developmental neuropsychiatric disorders, including autism, ASD, schizophrenia, and epilepsy including 1q21, NRXN1, and 16p13.11 deletions, as well as 22q11 duplications 67,74 . The first reported epigenome-wide association study for GTS, although limited in size, also found significant enrichment among the top hits in genes related to neuropsychiatric and neurological disorders 75 .…”

Section: Shared Genetic Basis With Other Neuropsychiatric and Neurolomentioning

confidence: 99%

Gilles de la Tourette syndrome

Robertson

Eapen

Singer

et al. 2017

Nat Rev Dis Primers

285

244

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The unstructured abstract of 200 words maximum should summarize the main points of the article. All information mentioned in the abstract must be addressed somewhere in the main article. The abstract should not contain references or display item citations. Gilles de la Tourette Syndrome (GTS), a reasonably common disorder, has had a long, tortuous and somewhat controversial history. First and well described in the 18th century 1,2 , the main features of GTS have, however, remained fairly constant. The core diagnostic features are multiple motor and one or more vocal (phonic) tics lasting for over a year. In addition, almost pathognomic, but not necessary, features described in the early documentations include coprolalia (involuntary, inappropriate swearing), and echophenomena (copying behaviours), as well as many co-morbidities and psychopathologies 3 . Introduction [suggested 500 words, is 544 words -8 refs] Mary Robertson Thoughts for Mary -Your word count when combining sections 1 and 2 is 1001 (1000 limit)-so OKGTS was originally described in France and the majority of early literature came from and standardised schedules such as diagnostic confidence, measurement of severity, QoL, and assessment of both co-morbidities and co-existent psychopathologies are currently available.Large international collaborative consortia are engaged in studies exploring aetiological factors in particular, and some international treatment studies are also underway. Perhaps as a result of earlier small patient numbers, the treatment trials have given good clues to management, but unsurprisingly systematic reviews and meta-analyses have been hampered, giving disappointing, if not unexpected, results. Intriguingly medications from the typical NRDP -Gilles de la Tourette Syndrome 3 antipsychotic family including haloperidol, which first had documented success in 1961 6,7 are still being used, although successive generations of "atypicals" are currently more in vogue,as are medications such as alpha-2-adrenergic agonists. Interestingly, haloperidol remains the only medication prescribed on licence in many parts of the world. In contrast to disorders such as ADHD, in which it is clear which treatments work and which do not require further study 8 , a variety of treatment studies in GTS are still being undertaken, including using other medications (trying to improve efficacy and reduce side effects), behavioural therapies, deep brain stimulation (for refractory cases), and other more "alternative" methods such as "orthotics" (teeth braces). The GTS community has to first agree on how common GTS is and then seek funding for research in the areas of major importance.2. Epidemiology [suggested 500 words, is 444 words, 6 additional refs] Mary Robertson GTS was for many years thought to be not only very rare, but a bizarre curiosity, with sporadic case reports peppering the literature. The belief that GTS was uncommon at the very least was held by many until Comings 9 controversially suggested that GTS occurred in between 0.66% and...

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Section: Shared Genetic Basis With Other Neuropsychiatric and Neurolomentioning

confidence: 99%

Gilles de la Tourette syndrome

Robertson

Eapen

Singer

et al. 2017

Nat Rev Dis Primers

285

244

View full text Add to dashboard Cite

show abstract

“…A number of different hereditary studies have emerged and given support to this hypothesis 10 , such as linkage analysis of large kindreds, which has given evidence that TS might be genetically heterogeneous 10 . Furthermore, other reports suggest a complex mode of inheritance, with bilineal transmission (both maternal and paternal), and other studies have disclosed an association with some genetic loci affecting only a minority of persons.…”

Section: The Genetical Hypothesismentioning

confidence: 99%

“…Furthermore, other reports suggest a complex mode of inheritance, with bilineal transmission (both maternal and paternal), and other studies have disclosed an association with some genetic loci affecting only a minority of persons. Finally, TS has been associated with genetic variations (deletions and duplications of specific DNA), with an abnormal increased number of repetitions of recurrent exonic copies, which can play a role in the pathogenesis of several neurodegenerative disorders 10 .…”

Section: The Genetical Hypothesismentioning

confidence: 99%

Tourette's syndrome: from demonic possession and psychoanalysis to the discovery of gene

Germiniani

Miranda

Ferenczy

et al. 2012

Arq. Neuro-Psiquiatr.

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In this paper we make a brief historical review of the hypothesis concerning the etiology of Tourette's syndrome (TS), focusing on varying trends over time: at first, its presumed relation to witchcraft and demonic possessions, followed by the psychoanalytical theory, which attributed TS to a masturbatory equivalent. Then, progressing to modern time, to the immunological theory and finally the advent of genetics and their role in the etiology of TS.

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“…Spectrum disorders such as ADHD, Tourettes Syndrome, and Autism are also included due to dopamine dysregulation. As well as other rare mutations (Sundaram et al, 2010) have been associated with Tourettes and Autism. One example includes the association with Neuroligin 4 (NLGN4) is a member of a cell adhesion protein family that appears to play a role in the maturation and function of neuronal synapses (Lawson-Yuen et al, 2008).…”

Section: Candidate Genes and Predisposition To Reward Dependence Behamentioning

confidence: 99%