What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome?

Molly M. Foote, Milo Careaga, Robert F Berman

Research output: Contribution to journalArticle

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)960-972
Number of pages13
JournalClinical Neuropsychologist
Volume30
Issue number6
DOIs
StatePublished - Aug 17 2016

Keywords

  • Fragile X mental retardation gene (FMR1)
  • Fragile X mental retardation protein (FMRP)
  • Fragile X premutation (PM)
  • FXTAS
  • intranuclear inclusions

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Neuropsychology and Physiological Psychology
  • Clinical Psychology
  • Arts and Humanities (miscellaneous)
  • Developmental and Educational Psychology

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