Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome

Jeanelle Ariza, Craig Steward, Flora Rueckert, Matt Widdison, Robert Coffman, Atiyeh Afjei, Stephen C Noctor, Randi J Hagerman, Paul J Hagerman, Veronica Martinez-Cerdeno

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene that is characterized by progressive action tremor, gait ataxia, and cognitive decline. Recent studies of mitochondrial dysfunction in FXTAS have suggested that iron dysregulation may be one component of disease pathogenesis. We tested the hypothesis that iron dysregulation is part of the pathogenic process in FXTAS. We analyzed postmortem choroid plexus from FXTAS and control subjects, and found that in FXTAS iron accumulated in the stroma, transferrin levels were decreased in the epithelial cells, and transferrin receptor 1 distribution was shifted from the basolateral membrane (control) to a predominantly intracellular location (FXTAS). In addition, ferroportin and ceruloplasmin were markedly decreased within the epithelial cells. These alterations have implications not only for understanding the pathophysiology of FXTAS, but also for the development of new clinical treatments that may incorporate selective iron chelation.

Original languageEnglish (US)
Pages (from-to)88-96
Number of pages9
JournalBrain Research
StatePublished - Feb 19 2015


  • Autism
  • CGG repeat
  • Choroid plexus
  • FMR1
  • Fragile X
  • Iron
  • Neurodegeneration
  • Premutation

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology
  • Developmental Biology
  • Molecular Biology


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