Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.

  title={Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.},
  author={Renate K Hukema and Ronald A. M. Buijsen and Martijn Schonewille and Chris Raske and Lies-anne Severijnen and Ingeborg Nieuwenhuizen-Bakker and Rob F M Verhagen and Lisanne F. van Dessel and Alex Maas and Nicolas Charlet-Berguerand and Chris I De Zeeuw and Paul J. Hagerman and Robert F. Berman and Rob Willemsen},
  journal={Human molecular genetics},
  volume={24 17},
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of the fragile X-premutation, who have an expanded CGG repeat in the 5'-UTR of the FMR1 gene. FXTAS is characterized by progressive development of intention tremor, ataxia, parkinsonism and neuropsychological problems. The disease is thought to be caused by a toxic RNA gain-of-function mechanism, and the major hallmark of the disease is ubiquitin-positive intranuclear inclusions in… CONTINUE READING
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