Chapter

Modeling Fragile X Syndrome

Volume 54 of the series Results and Problems in Cell Differentiation pp 255-269

Date:

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

  • Michael R. HunsakerAffiliated withDepartment of Neurological Surgery, University of CaliforniaNeuroTherapeutics Research Institute (NTRI), University of California
  • , Gloria ArqueAffiliated withNeuroTherapeutics Research Institute (NTRI), University of CaliforniaDepartment of Psychiatry and Behavioral Sciences, University of California
  • , Robert F. BermanAffiliated withDepartment of Neurological Surgery, University of CaliforniaNeuroTherapeutics Research Institute (NTRI), University of California
  • , Rob WillemsenAffiliated withNeuroTherapeutics Research Institute (NTRI), University of CaliforniaDepartment of Clinical Genetics, Erasmus MC Email author 
  • , Renate K. HukemaAffiliated withDepartment of Clinical Genetics, Erasmus MC

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Abstract

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.