Potential therapeutic interventions for fragile X syndrome
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.
|Persistent URL||dx.doi.org/10.1016/j.molmed.2010.08.005, hdl.handle.net/1765/21583|
Levenga, G.J., Vrij, F.M.S., Oostra, B.A., & Willemsen, R.. (2010). Potential therapeutic interventions for fragile X syndrome. Trends in Molecular Medicine, 16(11), 516–527. doi:10.1016/j.molmed.2010.08.005