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DOI: 10.1055/a-1095-5146
Pathophysiologie des Gilles-de-la-Tourette-Syndroms
Pathophysiology of the Gilles de la Tourette syndromePublikationsverlauf
Publikationsdatum:
05. Mai 2020 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00034916/202005/lookinside/thumbnails/10.1055-a-1095-5146-1.jpg)
ZUSAMMENFASSUNG
Beim Gilles-de-la-Tourette-Syndrom (GTS) handelt es sich um eine häufige facettenreiche, typischerweise im Kindes- oder Jugendalter beginnende neuropsychiatrische Erkrankung. Die Pathophysiologie ist nicht sicher geklärt. Eine wichtige Rolle scheinen die Basalganglien und kortiko-striato-thalamo-kortikale Regelkreise einzunehmen. Eine der konstantesten Veränderungen stellt eine diskrete Volumenreduktion des Striatums bei Kindern dar. Auch konnten Veränderungen im Bereich der weißen Substanz innerhalb dieses Regelkreises nachgewiesen werden. Auf kortikaler Ebene wurden Veränderungen im Bereich des sensomotorischen und präfrontalen Kortex, der supplementär motorischen Region und des inferioren parietalen Kortex (BA 40) beschrieben. Auf biochemischer Ebene zeigt sich vor allem eine erhöhte dopaminerge Transmission. Auch Serotonin scheint durch den Wegfall Dopamin hemmender Effekte eine Rolle zu spielen. Kognitionspsychologische bzw. wahrnehmungspsychologische Ansätze gingen zunächst von einer gestörten inhibitorischen Kontrolle aus.
Aufgrund uneinheitlicher Ergebnisse wird eher eine Interferenz mit Kompensationsmechanismen zur Tic-Kontrolle vermutet. Auch zeigen sich Veränderungen der interozeptiven Wahrnehmung. Allerdings ist unsicher, ob diese ursächlich sind oder eine sekundäre Veränderung des GTS darstellen. Einer der aktuellsten Ansätze stützt sich auf die „Theory of Event Coding“, welche besagt, dass sowohl Wahrnehmungen als auch Handlungen gemeinsam in „event files“ gespeichert werden und in enger Verbindung stehen. Es gibt erste experimentelle Hinweise, dass bei Patienten mit einem GTS die Kopplung zwischen Wahrnehmung und Handlung besonders stark ausgeprägt ist und Tics aufgrund dieser starken Bindung durch verschiedene Stimuli ausgelöst werden könnten.
ABSTRACT
Gilles de la Tourette syndrome is a common multifaceted neuropsychiatric disorder typically commencing in childhood or adolescence. Its pathophysiology is still unclear. The basal ganglia and cortico-striato-thalamo-cortical circuits seem to play an important role. One of the most consistent alterations in children is a volume reduction of the striatum. Additionally, changes have been documented within the white matter of cortico-striato-thalamo-cortical circuit. On a cortical level, alterations have been shown in different regions including the sensorimotor and prefrontal cortex, the supplementary motor area and the inferior parietal cortex (BA 40). Biochemically, an increase in dopamine activity seems to be crucial. Also, serotonin, particularly its dopamine-inhibiting effect is considered to be important.
Cognitive-psychological and perceptual-psychological approaches initially focused on an impairment of inhibitory control in Tourette patients. However, different studies yielded inconsistent results. Currently, altered cognitive control in Tourette syndrome is viewed in the context of interference with compensatory mechanisms for tic control. Additionally, alterations of interoceptive awareness have been shown. However, it remains unclear whether they are causative or represent secondary compensatory mechanisms. One of the most recent approaches is based on the „Theory of Event Coding“ based on the concept that both perception and action are stored together in so called „event files“. Thus, perception and action are tightly connected, which is thought to be even stronger in Gilles de la Tourette Syndromes patients compared to healthy controls resulting in tics being triggered by various stimuli being linked to them.
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