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Oligogenic risk score for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders.
J Appl Genet
January 2025
Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Pawińskiego 5, 02-106, Warsaw, Poland.
Gilles de la Tourette syndrome (GTS) and other tic disorders (TDs) have a substantial genetic component with their heritability estimated at between 60 and 80%. Here we propose an oligogenic risk score of TDs using whole-genome sequencing (WGS) data from a group of Polish GTS patients, their families, and control samples (n = 278). In this study, we first reviewed the literature to obtain a preliminary list of 84 GTS/TD candidate genes.
View Article and Find Full Text PDFEmerging therapeutic approaches for Tourette syndrome and other tic disorders - a systematic review of current clinical trials.
Eur Child Adolesc Psychiatry
December 2024
Department of Neurodevelopmental Disorders, Bethesda Children's Hospital, Budapest, Hungary.
Tourette syndrome and other tic disorders are prevalent neurodevelopmental disorders typically treated with behavioral techniques or pharmacological interventions, primarily antipsychotics. However, many patients do not achieve sufficient response to conventional treatments, underscoring the need for further research in this area. To provide a comprehensive overview of ongoing research activities, we systematically searched the clinical registries of the World Health Organization (WHO) and of the United States National Institutes of Health (NIH) for currently planned or ongoing registered clinical studies.
View Article and Find Full Text PDFPimozide and Adipic Acid: A New Multicomponent Crystalline Entity for Improved Pharmaceutical Behavior.
Molecules
November 2024
Department of Chemistry, Physical Chemistry Section & C.S.G.I. (Consorzio Interuniversitario per lo Sviluppo dei Sistemi a Grande Interfase), University of Pavia, Via Taramelli 16, 27100 Pavia, Italy.
Pimozide is a first-generation antipsychotic used in the treatment of schizophrenia, Gilles de la Tourette syndrome, and other chronic psychoses. Its in vivo efficacy is limited by poor solubility and consequent poor bioavailability. Therefore, adipic acid was used as a coformer for the preparation of a binary product with improved pharmaceutical properties.
View Article and Find Full Text PDFA critical role of action-related functional networks in Gilles de la Tourette syndrome.
Nat Commun
December 2024
Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Gilles de la Tourette Syndrome (GTS) is a chronic tic disorder, characterized by unwanted motor actions and vocalizations. While brain stimulation techniques show promise in reducing tic severity, optimal target networks are not well-defined. Here, we leverage datasets from two independent deep brain stimulation (DBS) cohorts and a cohort of tic-inducing lesions to infer critical networks for treatment and occurrence of tics by mapping stimulation sites and lesions to a functional connectome derived from 1,000 healthy participants.
View Article and Find Full Text PDF[Kieron O'Connor's scientific contribution to the characterization and treatment of Tourette's syndrome and obsessive-compulsive disorders].
Sante Ment Que
December 2024
Université du Québec à Montréal, Québec, Canada; Centre intégré universitaire de santé et de services sociaux du Nord-de-l'Île-de-Montréal, Québec, Canada.
Background Researcher and psychologist Kieron Philip O'Connor (1950-2019) pioneered the cognitive and behavioural approach at the Institut universitaire en santé mentale de Montréal (IUSMM). It was there that he began a career as a clinical researcher studying Tourette's syndrome (TS) and obsessive-compulsive and related disorder (OCD). At the time, apart from some behavioural approaches, little cognitive intervention was available to treat chronic tics and obsessive-compulsive disorder.
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