FXTAS presents with upregulation of the cytokines IL12 and TNFα

Brett D. Dufour, Sarwat Amina, Veronica Martinez-Cerdeno

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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 TNFα. 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, IFNγ, 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 TNFα 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.

Original languageEnglish (US)
Pages (from-to)117-120
Number of pages4
JournalParkinsonism and Related Disorders
StatePublished - Jan 2021


  • FMR1 gene
  • Neurodegeneration
  • Premutation

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology


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