The female Tourette patient: Sex differences in Tourette Disorder

Garris, Jordan; Quigg, Mark

doi:10.1016/j.neubiorev.2021.08.001

Cited by 37 publications

(37 citation statements)

References 77 publications

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“…When it comes to sex differences, a review by Garris and Quigg described that although TS is more common in boys, tics in girls tend to be more persistent. 5 Also, comorbidity differed, with ADHD being more common in boys and mood and anxiety disorders more common in girls. This topic was also explored by the European Multicentre Tics in Children Studies (EMTICS) group who showed that males, in general, had more severe symptoms than females with the exception of emotional problems.…”

Section: Resultsmentioning

confidence: 99%

Tourette syndrome research highlights from 2021

et al. 2022

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Section: Resultsmentioning

confidence: 99%

Tourette syndrome research highlights from 2021

et al. 2022

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“…We also observed a difference in the association of outcomes with TS PRS based on the sex of the individuals. TS is more common in males than females and there are also differences in the associated phenotypes observed in each group [37][38][39] . We found differences primarily in associations with disorders such as type 2 diabetes and respiratory conditions, although no difference was observed in the overall PRS score distributions among the sexes.…”

Section: Discussionmentioning

confidence: 99%

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Jain

Topaloudi

et al. 2022

Preprint

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Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date. In this study, we used the summary statistics from the latest meta-analysis of TS to calculate the polygenic risk score (PRS) of individuals in the UK Biobank data and applied a Phenome Wide Association Study (PheWAS) approach to determine the association of disease risk with a wide range of phenotypes. A total of 57 traits were found to be significantly associated with TS polygenic risk, including multiple psychosocial factors and mental health conditions such as anxiety disorder and depression. Additional associations were observed with complex non-psychiatric disorders such as Type 2 diabetes, heart palpitations, and respiratory conditions. Cross-disorder comparisons of phenotypic associations with genetic risk for other childhood-onset disorders (e.g.: attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) indicated an overlap in associations between TS and these disorders. ADHD and ASD had a similar direction of effect with TS while OCD had an opposite direction of effect for all traits except mental health factors. Sex-specific PheWAS analysis identified differences in the associations with TS genetic risk between males and females. Type 2 diabetes and heart palpitations were significantly associated with TS risk in males but not in females, whereas diseases of the respiratory system were associated with TS risk in females but not in males. This analysis provides further evidence of shared genetic and phenotypic architecture of different complex disorders.

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“…7), consistent with changes to compulsive or perseverative behaviors in response to environmentally driven stimuli. Interestingly, studies suggest that complex tics, which can reflect compulsions and are often performed in a ritualistic manner, are more common in females with TD versus males (Garris and Quigg, 2021; Hirschtritt et al, 2015). Thus, our genetic models may be useful for modelling sex-specific behavioral differences in TD.…”

Section: Discussionmentioning

confidence: 99%

A cadherin mutation in Celsr3 linked to Tourette Disorder affects dendritic patterning and excitability of cholinergic interneurons

Poppi

Ho-Nguyen

et al. 2022

Preprint

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CELSR3 encodes an atypical protocadherin cell adhesion receptor that was recently identified as a high-risk gene for Tourette disorder. A putative damaging de novo variant was inserted into the mouse genome to generate an amino acid substitution within the fifth cadherin repeat. By contrast to Celsr3 constitutive null animals, mice homozygous for the R774H amino acid substitution are viable and have grossly normal forebrain development. The density of cortical and striatal interneuron subpopulations is normal, but 3D geometric analysis of cortical pyramidal neurons and striatal cholinergic interneurons revealed changes to dendritic patterning and types and distributions of spines. Furthermore, patch clamp recordings in cholinergic interneurons located within the sensorimotor striatum uncovered mild intrinsic hyperexcitability. Despite these changes, Celsr3R774H homozygous mice do not show obvious tic-like stereotypies at baseline nor motor learning impairments, but females exhibited perseverative digging behavior. Our findings show that a human mutation in CELSR3 linked to Tourette disorder is sufficient to alter dendritic patterning in the cortex and striatum and also the membrane properties of cholinergic interneurons.

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The female Tourette patient: Sex differences in Tourette Disorder

Cited by 37 publications

References 77 publications

Tourette syndrome research highlights from 2021

Tourette syndrome research highlights from 2021

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

A cadherin mutation in Celsr3 linked to Tourette Disorder affects dendritic patterning and excitability of cholinergic interneurons

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