ERA-Net E-Rare

Fragile X associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of the FMR1 premutation.  This premutation consists of an expansion of 55-200 CGGs, which results in elevated levels of FMR1 messenger RNA. The mRNA containing the repeat expansion is thought to be the cause of the disease. In this research project a mouse model for FXTAS will be applied to study the toxic effects of FMR1 mRNA. The results will advance our knowledge about the cellular and molecular mechanisms involved in FXTAS. In addition, the researchers will try to halt or reverse disease progression using drugs that target the elevated levels of FMR1 messenger RNA. The outcome will provide a framework for developing innovative interventions for FXTAS.