Potential therapeutic interventions for fragile X syndrome

Trends Mol Med. 2010 Nov;16(11):516-27. doi: 10.1016/j.molmed.2010.08.005. Epub 2010 Sep 21.


Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP); FMRP deficiency in neurons of patients with FXS causes intellectual disability (IQ<70) and several behavioural problems, including hyperactivity and autistic-like features. In the brain, no gross morphological malformations have been found, although subtle spine abnormalities have been reported. FXS has been linked to altered group I metabotropic glutamate receptor (mGluR)-dependent and independent forms of synaptic plasticity. Here, we discuss potential targeted therapeutic strategies developed to specifically correct disturbances in the excitatory mGluR and the inhibitory gamma-aminobutyric (GABA) receptor pathways that have been tested in animal models and/or in clinical trials with patients with FXS.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Benzodiazepines / therapeutic use
  • Excitatory Amino Acid Agonists / therapeutic use
  • Fragile X Syndrome / drug therapy
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / metabolism*
  • Humans
  • Models, Biological
  • Receptor, Metabotropic Glutamate 5
  • Receptors, GABA / metabolism
  • Receptors, Metabotropic Glutamate / agonists
  • Receptors, Metabotropic Glutamate / metabolism*
  • Signal Transduction / drug effects


  • Excitatory Amino Acid Agonists
  • Receptor, Metabotropic Glutamate 5
  • Receptors, GABA
  • Receptors, Metabotropic Glutamate
  • metabotropic glutamate receptor type 1
  • Benzodiazepines