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Molecular and Genetic Studies on Tourette Syndrome and Comorbid Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 31 July 2024 | Viewed by 354

Special Issue Editors


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Guest Editor
Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland
Interests: genetics; next-generation sequencing; neuro-muscular disorders; myopathies; muscular dystrophies; neurodevelopmental disorders; Tourette syndrome

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Guest Editor
Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
Interests: clinical neuroscience; Tourette syndrome; obsessive compulsive disorder; Tourette associations networking

Special Issue Information

Dear Colleagues,

Gilles de la Tourette syndrome (GTS) is a developmental neuropsychiatric disorder characterized by multiple involuntary motor and vocal tics. The clinical phenotype of GTS belongs to the spectrum of tic disorders (TDs). Moreover, up to 85% GTS patients present a variety of additional symptoms due to psychiatric comorbidities, including attention-deficit and hyperactivity disorder (ADHD), obsessive–compulsive disorder (OCD), autism spectrum disorder (ASD), affective disorders, anxiety disorders, impulse control disorders, and personality disorders, implying an overlapping etiology.

The estimated GTS prevalence is approximately 1%; however, other, non-GTS TDs are more common than GTS and affect up to 5% of the general population. In general, GTS and TDs have a significant genetic component, with the heritability estimated at 60–80%. However, the clinical phenotype may be influenced by environmental, prenatal, and perinatal factors, hormonal disturbances, and interactions with multiple proteins.

Authors are invited to submit research articles and reviews on related topics, which will improve our understanding of the etiology and pathomechanism of neuropsychiatric disorders. The topics may include, but are not limited to, genetics and genomics, molecular neurobiology, neuromolecular imaging, molecular experimental models, and treatment. Our Special Issue is mainly focused on molecular research. Therefore, we wish to avoid attracting pure clinical manuscripts. Please notice this point when you prepare your manuscript for submission to this Special Issue.

Dr. Jakub P. Fichna
Dr. Natalia Szejko
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Tourette syndrome
  • genetics and genomics
  • molecular neurobiology

Published Papers (1 paper)

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Research

13 pages, 331 KiB  
Article
Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome
by Jakub P. Fichna, Mateusz Chiliński, Anup Kumar Halder, Paweł Cięszczyk, Dariusz Plewczynski, Cezary Żekanowski and Piotr Janik
Int. J. Mol. Sci. 2024, 25(11), 5758; https://doi.org/10.3390/ijms25115758 - 25 May 2024
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Abstract
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental psychiatric disorder with complex and elusive etiology with a significant role of genetic factors. The aim of this study was to identify structural variants that could be associated with familial GTS. The study group [...] Read more.
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental psychiatric disorder with complex and elusive etiology with a significant role of genetic factors. The aim of this study was to identify structural variants that could be associated with familial GTS. The study group comprised 17 multiplex families with 80 patients. Structural variants were identified from whole-genome sequencing data and followed by co-segregation and bioinformatic analyses. The localization of these variants was used to select candidate genes and create gene sets, which were subsequently processed in gene ontology and pathway enrichment analysis. Seventy putative pathogenic variants shared among affected individuals within one family but not present in the control group were identified. Only four private or rare deletions were exonic in LDLRAD4, B2M, USH2A, and ZNF765 genes. Notably, the USH2A gene is involved in cochlear development and sensory perception of sound, a process that was associated previously with familial GTS. In addition, two rare variants and three not present in the control group were co-segregating with the disease in two families, and uncommon insertions in GOLM1 and DISC1 were co-segregating in three families each. Enrichment analysis showed that identified structural variants affected synaptic vesicle endocytosis, cell leading-edge organization, and signaling for neurite outgrowth. The results further support the involvement of the regulation of neurotransmission, neuronal migration, and sound-sensing in GTS. Full article
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