Abstract
Fragile X syndrome (FXS) is the most common monogenic form of intellectual disability, and is strongly associated with autism spectrum disorders (ASD). There is wide variation in the severity of symptoms, which may be due in part to modifier genes, such as MAOA . The most consistently observed behavioral feature is social avoidance, which may be secondary to problems with arousal modulation. This social avoidance distinguishes ASD associated with fragile X from idiopathic ASD. The fragile X gene ( FMR1 ) encodes an RNA binding protein (FMRP) that modulates, primarily by suppression of translation, the expression of approximately 4% of brain genes. The mGluR theory of fragile X postulates that over-activity of glutamate excitatory pathways play a major role in symptomatology. Animal models, particularly mouse and Drosophila knockouts, are providing insights into the underlying pathophysiology and are leading to the development of targeted treatments. Current drug trials in FXS are being carried out and may lead to approved drugs, which may be beneficial for ASD as well.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
