Project description:Inattention, impulsivity and hyperactivity are the primary behaviors associated with Attention Deficit / Hyperactivity Disorder (ADHD). Previous studies proved that peripheral blood gene expression signature could mirror central nervous system disease. This study determined if gene expression in blood correlated with inattention, hyperactivity/impulsivity rating scales and/or both in subjects with Tourette syndrome (TS).
Project description:We performed the first single-nucleus transcriptomic analysis of postmortem DLPFC tissue from individuals with TD and age-matched neurotypical controls. No significant differences in cell numbers were observed between groups. Gene ontology analyses revealed broad upregulation of transcripts related to protein synthesis, most prominently in microglia, oligodendrocytes, and interneurons. Within neuronal clusters, these changes were most pronounced in superficial and middle-layer pyramidal neurons and vasointestinal peptide (VIP)-positive interneurons. Differential expression analyses showed widespread increases in immediate early genes (IEGs) and glucocorticoid-responsive transcripts across all cell types in TD. Furthermore, all cell populations in TD samples exhibited enrichment for genes associated with stress-related psychopathology. These findings implicate the DLPFC as a locus of heightened stress responsivity and disrupted excitatory–inhibitory development in TD.
Project description:To identify the differential expression of serum microRNA as molecular fingerprints for Arnold-Chiari (AC) and Tourette syndromes (TS), also in comorbid status between both disorders (ACTS). To investigate on differentially expressed miRNA associations with the neuropsychological and neuroimaging parameters for each participant and their potential involvement in AC and TS pathological pathways.