Cheryl Richards edited Pathophysiology.md  about 8 years ago

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|  | Astrocyte metabolism in TS \citep{25735483} | A collaborative genetic study demonstrated an association of TS with 33 genes related to glycolysis or glutamine metabolism. None of the individual genes would have survived correction for multiple testing and the results were consistent with a combined effect of many genetic variants of small effect. These results narrow the hunt for genes that may contribute to the development of TS and they also suggest a new direction for future electrophysiological, imaging and pharmacological studies. |   |  |  Transcriptome analysis of the human striatum in Tourette syndrome \citep{25199956} | This important study follows up on the autopsy results from the Vaccarino lab by comparing RNA transcripts from the basal ganglia of 9 TS and 9 matched control subjects. The most strongly associated set of downregulated transcripts involved striatal interneurons, consistent with the autopsy studies. The leading set of upregulated transcripts involved immune-related genes even though none of the TS subjects met the diagnostic criteria for pediatric autoimmune streptococcal-associated neuropsychiatric disorders or pediatric acute onset neuropsychiatric syndrome. There was a lack of overlap between the results obtained in the present study using brain tissue and previous studies using blood samples. The authors conclude that their results "strongly [implicate] disrupted interneuron signaling in the pathophysiology of severe TS and suggests that metabolic alterations may be linked to their death or dysfunction." |  ### Neuroimaging 

|   | The eyes have it \citep{26175694} | A measure of cognitive control explained half of the variance in tic severity. Blink rate—related to dopamine—was higher in children with TS than in controls. Pupil diameter—related to norepinephrine—was correlated to anxiety. |  | Electrophysiological similarities in Tourette syndrome and chronic tic disorder \citep{26531497} | – |  Unmedicated TS subjects were compared with antipsychotic-medicated TS subjects and normal controls | .  |