Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome

E Berry-Kravis, A Sumis, C Hervey… - … of developmental & …, 2008 - journals.lww.com
Objective: In fragile X syndrome (FXS), it is hypothesized that absence of the fragile X mental
retardation protein (FMRP) disrupts regulation of group 1 metabotropic glutamate receptor
(mGluR and mGluR5)-dependent translation in dendrites. Lithium reduces mGluR-activated
translation and reverses phenotypes in the dfxr mutant fly and fmr1 knockout mouse. This
pilot add-on trial was conducted to evaluate safety and efficacy of lithium in humans with
FXS. Methods: Fifteen individuals with FXS, ages 6–23, received lithium titrated to levels of …