2017/09/15 by Russell C. Dale · 2 citations
Psychology · Medicine · Neuroscience · #Obsessive-Compulsive Spectrum Disorders #Herpesvirus Infections and Treatments #Autoimmune Neurological Disorders and Treatments #Tourette syndrome #Disinhibition #Medicine #Neuroscience #Tics #Basal ganglia #Etiology #Autism #Disease #Bioinformatics #Psychiatry #Psychology #Pathology #Central nervous system #Biology
paper · doi:10.1097/mop.0000000000000546
openalex publication_date 2017/09/15 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28
PURPOSE OF REVIEW: Describe developments in the etiological understanding of Tourette syndrome. RECENT FINDINGS: Tourette syndrome is a complex heterogenous clinical syndrome, which is not a unitary entity. Pathophysiological models describe gamma-aminobutyric acid-ergic-associated disinhibition of cortico-basal ganglia motor, sensory and limbic loops. MRI studies support basal ganglia volume loss, with additional white matter and cerebellar changes. Tourette syndrome cause likely involves multiple vulnerability genes and environmental factors. Only recently have some vulnerability gene findings been replicated, including histidine decarboxylase and neurexin 1, yet these rare variants only explain a small proportion of patients. Planned large genetic studies will improve genetic understanding. The role of inflammation as a contributor to disease expression is now supported by large epidemiological studies showing an association with maternal autoimmunity and childhood infection. Investigation of blood cytokines, blood mRNA and brain mRNA expression support the role of a persistent immune activation, and there are similarities with the immune literature of autistic spectrum disorder. Current treatment is symptomatic, although there is a better appreciation of factors that influence treatment response. SUMMARY: At present, therapeutics is focused on symptom-based treatments, yet with improved etiological understanding, we will move toward disease-modifying therapies in the future.