Modeling Fragile X Syndrome pp 255-269

Part of the Results and Problems in Cell Differentiation book series (RESULTS, volume 54)

Mouse Models of the Fragile X Premutation and the Fragile X Associated Tremor/Ataxia Syndrome

  • Michael R. Hunsaker
  • Gloria Arque
  • Robert F. Berman
  • Rob Willemsen
  • Renate K. Hukema


The use of mutant mouse models of neurodevelopmental and neurodegenerative disease is essential in order to understand the pathogenesis of many genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). The choice of which animal model is most suitable to mimic a particular disease depends on a range of factors, including anatomical, physiological, and pathological similarities; presence of orthologs of genes of interest; and conservation of basic cell biological and metabolic processes. In this chapter, we will discuss two mouse models of the fragile X premutation which have been generated to study the pathogenesis of FXTAS and the effects of potential therapeutic interventions. Behavioral, molecular, neuropathological, and endocrine features of the mouse models and their relation to human FXTAS are discussed.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Michael R. Hunsaker
    • 1
    • 2
  • Gloria Arque
    • 2
    • 3
  • Robert F. Berman
    • 1
    • 2
  • Rob Willemsen
    • 2
    • 4
  • Renate K. Hukema
    • 4
  1. 1.Department of Neurological SurgeryUniversity of CaliforniaDavisUSA
  2. 2.NeuroTherapeutics Research Institute (NTRI)University of CaliforniaDavisUSA
  3. 3.Department of Psychiatry and Behavioral SciencesUniversity of CaliforniaDavisUSA
  4. 4.Department of Clinical GeneticsErasmus MCRotterdamThe Netherlands

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