FXTAS presents with upregulation of the cytokines IL12 and TNFα

Introduction: Fragile X Tremor and Ataxia Syndrome is a progressive neurodegenerative disorder that develops in some FMR1 premutation carriers. The objective of this study is to characterize how cytokine levels are altered in the FXTAS brain. Methods: Fresh frozen cerebellar tissue from FXTAS cases and controls was homogenized and analyzed for 12 different cytokines using a commercially available ELISA panel. Results: Relative to controls, FXTAS cases showed large and significant increases in the cytokines IL-12 and TNF alpha. There were large but non-significant increases in the levels of IL-2, IL-8, and IL-10 in FXTAS cases. The cytokines IL-1A, IL-1B, IL-4 IL-6, IL-17A, IFN gamma, and GM-CSF were not different between FXTAS and control subjects. Conclusions: For the first time, we demonstrate an increase in the pro-inflammatory cytokines TNF alpha and IL-12 in the FXTAS brain, both of which are implicated in the pathogenesis of Multiple Sclerosis, another neurodegenerative disorder that predominantly consists of white matter disease.