Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: Through eye movements

Annie L. Shelton, Kim Cornish, Claudine Kraan, Nellie Georgiou-Karistianis, Sylvia A. Metcalfe, John L. Bradshaw, Darren R. Hocking, Alison D. Archibald, Jonathan Cohen, Julian N. Trollor, Joanne Fielding*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

25 Citations (Scopus)


There is evidence which demonstrates that a subset of males with a premutation CGG repeat expansion (between 55 and 200 repeats) of the fragile X mental retardation 1 gene exhibit subtle deficits of executive function that progressively deteriorate with increasing age and CGG repeat length. However, it remains unclear whether similar deficits, which may indicate the onset of more severe degeneration, are evident in female PM-carriers. In the present study we explore whether female PM-carriers exhibit deficits of executive function which parallel those of male PM-carriers. Fourteen female fragile X premutation carriers without fragile X-associated tremor/ataxia syndrome and fourteen age, sex, and IQ matched controls underwent ocular motor and neuropsychological tests of select executive processes, specifically of response inhibition and working memory. Group comparisons revealed poorer inhibitory control for female premutation carriers on ocular motor tasks, in addition to demonstrating some difficulties in behaviour self-regulation, when compared to controls. A negative correlation between CGG repeat length and antisaccade error rates for premutation carriers was also found. Our preliminary findings indicate that impaired inhibitory control may represent a phenotype characteristic which may be a sensitive risk biomarker within this female fragile X premutation population.

Original languageEnglish
Pages (from-to)201-208
Number of pages8
JournalBrain and Cognition
Issue number1
Publication statusPublished - Mar 2014
Externally publishedYes


  • Eye tracking
  • FMR1
  • Fragile X syndrome
  • FXS
  • Premutation carrier
  • Response inhibition
  • Saccade


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