Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability
with prevalence rates estimated to be 1:5,000 in males and 1:8,000 in females. The increase of
>200 Cytosine Guanine Guanine (CGG) repeats in the 5’ untranslated region of the Fragile X Mental
Retardation 1 (FMR1) gene results in transcriptional silencing on the FMR1 gene with a subsequent
reduction or absence of fragile X mental retardation protein (FMRP), an RNA binding protein
involved in the maturation and elimination of synapses. In addition to intellectual disability,
common features of FXS are behavioral problems, autism, language deficits and atypical physical
features. There are still no currently approved curative therapies for FXS, and clinical management
continues to focus on symptomatic treatment of comorbid behaviors and psychiatric problems.
Here we discuss several treatments that target the neurobiological pathway abnormal in FXS. These
medications are clinically available at present and the data suggest that these medications can be
helpful for those with FXS.
Keywords: Fragile X syndrome, targeted treatment, sertraline, metformin, cannabidiol, acamprosate, lovastatin, minocycline.
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