Neurobehavioural evidence for the involvement of the FMR1 gene in female carriers of fragile X syndrome

Claudine M. Kraan, Darren R. Hocking, John L. Bradshaw, Joanne Fielding, Jonathan Cohen, Nellie Georgiou-Karistianis, Kim M. Cornish*

*Corresponding author for this work

    Research output: Contribution to journalReview articlepeer-review

    42 Citations (Scopus)


    For years, premutation-carriers of fragile X-syndrome (FXS) were assumed free from any deleterious phenotype. In this review, we discuss the current literature on neurocognitive, emotional and neuromotor profiles emerging in females with the fragile-X premutation, and discuss phenotypic profiles in male premutation-carriers to gain insights into possible underlying mechanisms associated with FMR1 gene expression. We contend that this emerging phenotypic profile in females with the fragile-X premutation needs further investigation using experimentally-driven tasks sensitive to neural networks especially vulnerable to FMR1 gene expression. Further investigation of developmental aspects of the female carrier profile is needed to determine the extent to which emotional, cognitive and neurobehavioural challenges indicate at-risk profiles for later degenerative decline, or rather a stable developmental phenotype. These future research avenues will provide critical new information which will enable identification of women at greatest risk for subtle age-dependent neurobehavioural changes well before the onset of more serious clinical consequences alongside the identification of biomarkers which may be useful in establishing the efficacy of future therapeutic interventions.

    Original languageEnglish
    Pages (from-to)522-547
    Number of pages26
    JournalNeuroscience and Biobehavioral Reviews
    Issue number3
    Publication statusPublished - Mar 2013


    • Executive function [33]
    • Female [114]
    • FMR1 mRNA [42]
    • FMRP [33]
    • FXS [29]
    • Neurobehavioural [6]
    • Neuromotor [44]
    • Premutation [188]
    • Visuospatial [33]


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