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Introduction Fragile X syndrome (FXS) was first described in 1943 and it is now established as the most common cause of inheritable intellectual disabilities (ID) ( Fmr1 gene, finally leading to transcriptional silencing of the fragile X mental retardation protein (FMRP) ( Fmr1 gene, that in turn cause the complete loss of FMRP or the production of a functionally deficient protein ( This disease affects 1:4,000 males and 1:6,0008,000 females ( Fmr1 knockout (KO) mice and from human post-mortem brain biopsies showed increased amount and length of dendritic spines, with an immature profile ( FMRP inhibits translation initiation through its interactions with eIF4E (Eukaryotic translation Initiation Factor 4E) and CYFIP1 (Cytoplasmic FMRP Interacting Protein 1) ( Current Strategies in FXS Treatment Recently, strong effort was dedicated to develop specific FXS pharmacological treatment that can lead to a possible cure, or at least alleviate symptoms (Table 1

This leads to neurodegenerative changes, most prominently in hippocampus, observed in depression

doi: 10.1530/JOE180074 164 LianALiXJiangQ

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