What is the pathophysiology of Tourette syndrome (TS)?

Updated: May 30, 2019
  • Author: William C Robertson, Jr, MD; Chief Editor: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP  more...
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The pathophysiology underlying TS remains unknown. Biochemical, imaging, neurophysiologic and genetic studies support the hypothesis that TS is an inherited, developmental disorder of neurotransmission.

The basal ganglia and inferior frontal cortex have been implicated in the pathogenesis of TS, as well as obsessive-compulsive disorder (OCD) and attention deficit–hyperactivity disorder (ADHD). Neuropathological studies, however, have failed to reveal any consistent structural abnormalities in these areas.

Volumetric MRI studies have suggested that the normal asymmetry of the basal ganglia is lost in affected individuals. Healthy right-handed males normally demonstrate a predominance of the left putamen but this appears to be absent in TS, supporting the possibility of a developmental abnormality.

Little is known about the role of the thalamus in the pathogenesis of TS. A recent study using conventional measures of volumes and surface morphology demonstrated enlargement of the thalamus of more than 5% in affected patients of all ages. These findings raise the possibility of activity-dependent hypertrophy and therefore suggest that TS may involve previously unsuspected motor pathways. [10]

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