title: What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome?
abstract: OBJECTIVE
  To describe in this review how research using mouse models developed to study the Fragile X premutation (PM) and Fragile X-associated tremor/ataxia syndrome (FXTAS) have contributed to understanding these disorders. PM carriers bear an expanded CGG trinucleotide repeat on the Fragile X Mental Retardation 1 (FMR1) gene, and are at risk for developing the late onset neurodegenerative disorder FXTAS.
  
  
  CONCLUSIONS
  Much has been learned about these genetic disorders from the development and study of mouse models. This includes new insights into the early cellular and molecular events that occur in PM carriers and in FXTAS, the presence of multiorgan pathology beyond the CNS, immunological dysregulation, unexpected synthesis of a potentially toxic peptide in FXTAS (i.e., FMRpolyG), and evidence that the disease process may be halted or reversed by appropriate molecular therapies given early in the course of disease.
authors.affiliation: a Department of Neurological Surgery , University of California Davis , Davis , CA , USA.
authors.forename: Molly M
authors.initials: MM
authors.lastname: Foote
authors.affiliation: b Department of Psychiatry and UC Davis M.I.N.D. Institute , University of California Davis , Davis , CA , USA.
authors.forename: Milo
authors.initials: M
authors.lastname: Careaga
authors.affiliation: c Department of Neurological Surgery and the UC Davis M.I.N.D. Institute , University of California Davis , Davis , CA , USA.
authors.forename: Robert F
authors.initials: RF
authors.lastname: Berman
mesh_terms: D000818:Animals; D001259:Ataxia / Q000235:genetics* / Q000473:pathology; D004195:Disease Models, Animal; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D051379:Mice; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D014202:Tremor / Q000235:genetics* / Q000473:pathology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1
keywords: FXTAS; Fragile X mental retardation gene (FMR1); Fragile X mental retardation protein (FMRP); Fragile X premutation (PM); intranuclear inclusions