Blood transcriptional variation is associated with clinical and neuroimaging phenotypes in essential tremor

Blood RNA-seq was analysed in 38 individuals with ET and 37 controls. Differential expression, phenotype associations, co-expression networks, and cross-tissue concordance with ET cerebellar RNA-seq were assessed.

Four genes were significantly upregulated in ET: CXCL5, HSPB1, CLEC7A, and PRDX6. Diagnostic effects were otherwise limited, but within ET, gene expression showed stronger associations with cognition and regional brain structure, including immune, mitochondrial, and erythroid/vascular transcriptional modules. Blood RNA-seq shows modest diagnostic differences in ET but more substantial transcriptional associations with phenotypic heterogeneity.