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

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.

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.


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.


2021 ◽  
Author(s):  
Alessio Bellato ◽  
Luke Norman ◽  
Iman Idrees ◽  
Carolina Yuri Ogawa ◽  
Alice Waitt ◽  
...  

Altered performance monitoring is implicated in obsessive-compulsive disorder (OCD), Gilles de la Tourette syndrome (GTS), attention-deficit/hyperactivity disorder (ADHD) and autism. We conducted a systematic review and meta-analysis of electrophysiological correlates of performance monitoring (error-related negativity, ERN; error positivity, Pe; feedback-related negativity, FRN; feedback-P3) in individuals with OCD, GTS, ADHD or autism compared to control participants, or associations between correlates and symptoms/traits of these conditions. Meta-analyses on 97 studies (5890 participants) showed increased ERN in OCD (Hedge’s g=0.54[CIs:0.44,0.65]) and GTS (g=0.99[CIs:0.05,1.93]). OCD also showed increased Pe (g=0.51[CIs:0.21,0.81]) and FRN (g=0.50[CIs:0.26,0.73]). ADHD and autism showed reduced ERN (ADHD: g=-0.47[CIs:-0.67,-0.26]; autism: g=-0.61[CIs:-1.10,-0.13]). ADHD also showed reduced Pe (g=-0.50[CIs:-0.69,-0.32]). Implications of these findings in terms of shared and distinct performance monitoring alterations across these neurodevelopmental conditions are discussed.


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