scholarly journals Networks in the Field of Tourette Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Alexander Kleimaker ◽  
Maximilian Kleimaker ◽  
Amelie Behm ◽  
Anne Weissbach ◽  
Tobias Bäumer ◽  
...  

Gilles de la Tourette syndrome (TS) is a neuropsychiatric neurodevelopmental disorder with the cardinal clinical features of motor and phonic tics. Clinical phenomenology can be complex since, besides tics, there are other features including premonitory urges preceding tics, pali-, echo-, and coprophenomena, hypersensitivity to external stimuli, and symptom dependency on stress, attention, and other less well-defined factors. Also, the rate of comorbidities, particularly attention deficit hyperactivity disorder and obsessive-compulsive disorder, is high. Mirroring the complexities of the clinical course and phenomenology, pathophysiological findings are very diverse, and etiology is disputed. It has become clear, though, that abnormalities in the basal ganglia and their connections with cortical areas are key for the understanding of the pathophysiology and as regards etiology, genetic factors are crucial. Against this background, both adequate clinical management of TS and TS-related research require multidisciplinary preferably international cooperation in larger groups or networks to address the multiple facets of this disorder and yield valid and useful data. In particular, large numbers of patients are needed for brain imaging and genetic studies. To meet these requirements, a number of networks and groups in the field of TS have developed over the years creating an efficient, lively, and supportive international research community. In this review, we will provide an overview of these groups and networks.

Genes ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 86
Author(s):  
Mathis Hildonen ◽  
Amanda M. Levy ◽  
Christina Dahl ◽  
Victoria A. Bjerregaard ◽  
Lisbeth Birk Møller ◽  
...  

Gilles de la Tourette syndrome (GTS) is a complex neurodevelopmental disorder characterized by motor and vocal tics. Most of the GTS individuals have comorbid diagnoses, of which obsessive-compulsive disorder (OCD) and attention deficit-hyperactivity disorder (ADHD) are the most common. Several neurotransmitter systems have been implicated in disease pathogenesis, and amongst these, the dopaminergic and the serotonergic pathways are the most widely studied. In this study, we aimed to investigate whether the serotonin transporter (SERT) gene (SLC6A4) was differentially expressed among GTS individuals compared to healthy controls, and whether DNA variants (the SERT-linked polymorphic region 5-HTTLPR, together with the associated rs25531 and rs25532 variants, and the rare Ile425Val variant) or promoter methylation of SLC6A4 were associated with gene expression levels or with the presence of OCD as comorbidity. We observed that SLC6A4 expression is upregulated in GTS individuals compared to controls. Although no specific genotype, allele or haplotype was overrepresented in GTS individuals compared to controls, we observed that the LAC/LAC genotype of the 5-HTTLPR/rs25531/rs25532 three-locus haplotype was associated with higher SLC6A4 mRNA expression levels in GTS individuals, but not in the control group.


2021 ◽  
Vol 22 (2) ◽  
pp. 853
Author(s):  
Chia-Jui Hsu ◽  
Lee-Chin Wong ◽  
Wang-Tso Lee

Chronic tic disorder and Tourette syndrome are common childhood-onset neurological diseases. However, the pathophysiology underlying these disorders is unclear, and most studies have focused on the disinhibition of the corticostriatal–thalamocortical circuit. An autoimmune dysfunction has been proposed in the pathogenetic mechanism of Tourette syndrome and related neuropsychiatric disorders such as obsessive–compulsive disorder, autism, and attention-deficit/hyperactivity disorder. This is based on evidence from animal model studies and clinical findings. Herein, we review and give an update on the clinical characteristics, clinical evidence, and genetic studies in vitro as well as animal studies regarding immune dysfunction in Tourette syndrome.


2019 ◽  
Vol 4 (2) ◽  
pp. 68-70 ◽  
Author(s):  
Mengühan Araz Altay

Introduction: Attention deficit and hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in children and adolescents. Atomoxetine is a non-stimulant drug used in the treatment of ADHD. Case Presentation: In this article, a case of obsessive-compulsive disorder (OCD) which occurred in an 11-year-old boy with an increased dose of atomoxetine during ADHD treatment and disappeared with dose reduction is reported. This case is only the second OCD case resulting from the use of atomoxetine. Conclusion: The case reported herein is the second case caused by the use of atomoxetine and the first in which OCD symptoms regressed when the atomoxetine dose was reduced. OCD development due to atomoxetine consumption may occur at different doses. When OCD develops, the solution may be dose reduction, or it may be necessary to discontinue treatment with atomoxetine.


Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 66
Author(s):  
Raymond A. Clarke ◽  
Valsamma Eapen

Tourette syndrome (TS) is a neurodevelopmental disorder characterised by motor and vocal tics and strong association with autistic deficits, obsessive–compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD). The genetic overlap between TS and autism spectrum disorder (ASD) includes those genes that encode the neurexin trans-synaptic connexus (NTSC) inclusive of the presynaptic neurexins (NRXNs) and postsynaptic neuroligins (NLGNs), cerebellin precursors (CBLNs in complex with the glutamate ionotropic receptor deltas (GRIDs)) and the leucine-rich repeat transmembrane proteins (LRRTMs). In this study, we report the first evidence of a TS and ASD association with yet another NTSC gene family member, namely LRRTM4. Duplication of the terminal exon of LRRTM4 was found in two females with TS from the same family (mother and daughter) in association with autistic traits and ASD.


2017 ◽  
Vol 32 (13) ◽  
pp. 1047-1057 ◽  
Author(s):  
Camilla Groth ◽  
Nanette Mol Debes ◽  
Liselotte Skov

Tourette syndrome (TS) is a neurodevelopmental disorder characterized by frequent comorbidities and a wide spectrum of phenotype presentations. This study aimed to describe the development of phenotypes in TS and tic-related impairment in a large longitudinal study of 226 children and adolescents followed up after 6 years. The participants were clinically examined to assess tic severity and impairment, obsessive compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD). The development in phenotypes changed toward less comorbidity with 40% TS-only (no OCD or ADHD) (TS without OCD or ADHD) at baseline and 55% at follow-up.Tic-related impairment was expected to improve with an age-related tic decline, but surprisingly the impairment score did not reflect the tic decline. Sex, vocal and motor tics, and OCD and ADHD severity were highly significantly correlated to the impairment score. Knowledge of TS phenotype development is used in clinical settings to guide patients and for genetic, etiological, and clinical research purposes.


2020 ◽  
Vol 15 (2) ◽  
pp. FNL42 ◽  
Author(s):  
Maneeka Ubhi ◽  
Kanu Achinivu ◽  
Stefano Seri ◽  
Andrea E Cavanna

Aim: Correctly diagnosing repetitive behaviors in patients with Tourette syndrome (TS) can be challenging. The differential diagnosis between tics and stereotypies is of particular importance, because of treatment implications. Methods: We assessed the prevalence and clinical characteristics of stereotypies in a large sample of adult patients with TS attending a specialist clinic. Results: Mild stereotypies were reported by 21/148 patients (14.2%). Patients with stereotypies were significantly more likely to have a comorbid diagnosis of Asperger syndrome, attention-deficit and hyperactivity disorder, and obsessive-compulsive disorder, compared with patients without stereotypies. Multiple linear regression analysis revealed that the presence of Asperger syndrome significantly predicted stereotypy severity. Conclusion: Stereotypies are not rare in adults with TS and other neurodevelopmental conditions, especially Asperger syndrome.


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