scholarly journals Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome

Genes ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 86
Author(s):  
Mathis Hildonen ◽  
Amanda M. Levy ◽  
Christina Dahl ◽  
Victoria A. Bjerregaard ◽  
Lisbeth Birk Møller ◽  
...  
Keyword(s):  
Tourette Syndrome ◽  
Serotonin Transporter ◽  
Neurodevelopmental Disorder ◽  
Control Group ◽  
Obsessive Compulsive ◽  
Expression Levels ◽  
Compulsive Disorder ◽  
Hyperactivity Disorder ◽  
Elevated Expression ◽  
Gene Expression Levels

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.

scholarly journals Networks in the Field of Tourette Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Alexander Kleimaker ◽  
Maximilian Kleimaker ◽  
Amelie Behm ◽  
Anne Weissbach ◽  
Tobias Bäumer ◽  
...  
Keyword(s):  
Tourette Syndrome ◽  
Genetic Factors ◽  
Neurodevelopmental Disorder ◽  
Obsessive Compulsive ◽  
Genetic Studies ◽  
Compulsive Disorder ◽  
Hyperactivity Disorder ◽  
Large Numbers ◽  
Clinical Phenomenology ◽  
External Stimuli

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.

scholarly journals Disturbed Monitoring and Response Inhibition in patients with Gilles De La Tourette Syndrome and Co-Morbid Obsessive Compulsive Disorder

2003 ◽  
Vol 14 (1-2) ◽  
pp. 29-37 ◽  
Author(s):  
Sandra Verena Müller ◽  
Sönke Johannes ◽  
Berdieke Wieringa ◽  
Axel Weber ◽  
Kirsten Müller-Vahl ◽  
...  
Keyword(s):  
Executive Functions ◽  
Obsessive Compulsive Disorder ◽  
Tourette Syndrome ◽  
Response Inhibition ◽  
Error Detection ◽  
Neuropsychological Tests ◽  
Cognitive Domain ◽  
Control Group ◽  
Obsessive Compulsive ◽  
Compulsive Disorder

Objective:Fronto-striatal dysfunction has been discussed as underlying symptoms of Tourette syndrome (TS) with co-morbid Obsessive Compulsive Disorder (OCD). This suggests possible impairments of executive functions in this disorder, which were therefore targeted in the present study.Results:A comprehensive series of neuropsychological tests examining attention, memory and executive functions was performed in a group of 14 TS/OCD in co-occurrence with OCD patients and a matched control group.Results:While attentional and memory mechanisms were not altered, TS/OCS patients showed deficits in executive functions predominately in the areas of response inhibition and action monitoring.Conclusions:These findings provide further evidence for a substantial impairment of the frontal-striatal-thalamic-frontal circuit. We propose that the deficits in monitoring, error detection and response inhibition constitute the major impairment of TS/OCD patients in the cognitive domain.

scholarly journals Tourette Syndrome and Obsessive-Compulsive Disorder: Event-Related Brain Potentials Show Similar Mechansims of Frontal Inhibition but Dissimilar Target Evaluation Processes

2003 ◽  
Vol 14 (1-2) ◽  
pp. 9-17 ◽  
Author(s):  
Sönke Johannes ◽  
Bernardina M. Wieringa ◽  
Wido Nager ◽  
Dominik Rada ◽  
Kirsten R. Müller-Vahl ◽  
...  
Keyword(s):  
Tourette Syndrome ◽  
Clinical Aspects ◽  
Control Group ◽  
Obsessive Compulsive ◽  
Brain Potentials ◽  
Compulsive Disorder ◽  
Inhibitory Mechanisms ◽  
Modified Stroop ◽  
Patient Groups ◽  
Obsessive Compulsive Disorders

Objectives:Tourette Syndrome (TS) and Obsessive-Compulsive Disorders (OCD) share many clinical similarities and show a strong comorbidity. Current theories view a frontal-striatal dysfunction as the underlying cause of many clinical aspects of both disorders.This study sought to investigate mechanisms of conceptual integration and attention in both disorders. We hypothesized that the processing of stimuli with interfering aspects would be altered in a similar way while attentional mechanisms could differ.Methods:Event-related brain potentials (ERPs) were recorded in a modified STROOP-paradigm in groups of TS and OCD patients and in a control group. The paradigm involved the presentation of color words in a range of different colors. The subjects had to respond to words of matching word content and color and to ignore mismatching stimuli.Results:Incongruent stimuli elicited a frontal negative component (“N450”) which was enhanced in amplitude and prolonged in latency in both patient groups. Matching stimuli evoked enhanced N2 and P3b components representing target evaluation mechanisms. The OCD group alone displayed a larger P3b amplitude in comparison to both other groups.Conclusions:The data are interpreted to indicate that frontal inhibitory mechanisms are altered alike in TS and OCD. In contrast, only the OCD group showed evidence for aberrant target evaluation.

scholarly journals Immunological Dysfunction in Tourette Syndrome and Related Disorders

2021 ◽  
Vol 22 (2) ◽  
pp. 853
Author(s):  
Chia-Jui Hsu ◽  
Lee-Chin Wong ◽  
Wang-Tso Lee
Keyword(s):  
Tourette Syndrome ◽  
Animal Studies ◽  
Neurological Diseases ◽  
Clinical Findings ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Model Studies ◽  
Hyperactivity Disorder ◽  
Chronic Tic Disorder

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.

scholarly journals Atomoxetine Induced Obsessive-Compulsive Disorder

2019 ◽  
Vol 4 (2) ◽  
pp. 68-70 ◽  
Author(s):  
Mengühan Araz Altay
Keyword(s):  
Dose Reduction ◽  
Obsessive Compulsive Disorder ◽  
Neurodevelopmental Disorder ◽  
Obsessive Compulsive ◽  
Stimulant Drug ◽  
Case Presentation ◽  
Compulsive Disorder ◽  
Hyperactivity Disorder ◽  
Adhd Treatment ◽  
Different Doses

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.

scholarly journals LRRTM4 Terminal Exon Duplicated in Family with Tourette Syndrome, Autism and ADHD

Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 66
Author(s):  
Raymond A. Clarke ◽  
Valsamma Eapen
Keyword(s):  
Tourette Syndrome ◽  
Neurodevelopmental Disorder ◽  
Strong Association ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Terminal Exon ◽  
Obsessive Compulsive ◽  
Ionotropic Receptor ◽  
Compulsive Disorder ◽  
Mother And Daughter

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.

Phenotype Development in Adolescents With Tourette Syndrome: A Large Clinical Longitudinal Study

2017 ◽  
Vol 32 (13) ◽  
pp. 1047-1057 ◽  
Author(s):  
Camilla Groth ◽  
Nanette Mol Debes ◽  
Liselotte Skov
Keyword(s):  
Longitudinal Study ◽  
Tourette Syndrome ◽  
Wide Spectrum ◽  
Neurodevelopmental Disorder ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Age Related ◽  
Impairment Score ◽  
Tic Severity ◽  
Motor Tics

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.

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