Gilles de la Tourette syndrome

Abstract

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...

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

“…74.3% of TS cases were male, consistent with the 3- to 4-fold higher prevalence of the disorder in males compared to females (Robertson et al, 2017). The median age of cases was 17 (IQR, 12–31).…”

“…Tics typically emerge during childhood and peak in adolescence, with a subsequent reduction in symptoms, supporting the notion that TS is neurodevelopmental in origin (Robertson et al, 2017). Most TS patients (>85%) present with additional neuropsychiatric comorbidities, typically attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) (Hirschtritt et al, 2015), although the risk for mood, anxiety, major depressive, and autism spectrum disorders (ASD) is also elevated (Burd et al, 2009; Hirschtritt et al, 2015).…”

“…Despite this strong genetic component, the identification of bona-fide TS susceptibility genes has proven challenging. Although linkage analyses have identified several candidate regions, there is little consensus across studies, suggesting that, as with other neuropsychiatric disorders, TS is genetically complex and heterogeneous (Robertson et al, 2017). Similarly, analyses of TS genetic architecture using aggregated SNP data demonstrates that TS is highly polygenic, with the majority of inherited TS risk distributed throughout the genome (Davis et al, 2013), though an initial genome-wide association study (GWAS) did not yield any genome-wide significant loci, likely due to small sample size (Scharf et al, 2013).…”

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

“…1–3 Twin studies have provided compelling evidence that TS is genetically determined, 4–7 but the nature of the involved genetic factors, their mode of inheritance, and the mechanisms by which they act remain largely unknown.…”

Why does the goalkeeper eschew medication? The challenge of new treatments for tourette syndrome

“…Recent reviews on Gilles de la Tourette syndrome juxtapose the complexities of this disorder in terms of epidemiology, phenomenology, assessment, and dysfunction with the yet more challenging domains of comorbidities/coexistent psychopathologies, developmental pathobiology, and management. It is in relation to drug treatment that Howard articulates particular concerns.…”