Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice

Molly Foote, Gloria Arque, Robert F Berman, Mónica Santos

Research output: Contribution to journalReview article

6 Scopus citations

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some carriers of the fragile X premutation (PM). In PM carriers, there is a moderate expansion of a CGG trinucleotide sequence (55–200 repeats) in the fragile X gene (FMR1) leading to increased FMR1 mRNA and small to moderate decreases in the fragile X mental retardation protein (FMRP) expression. The key symptoms of FXTAS include cerebellar gait ataxia, kinetic tremor, sensorimotor deficits, neuropsychiatric changes, and dementia. While the specific trigger(s) that causes PM carriers to progress to FXTAS pathogenesis remains elusive, the use of animal models has shed light on the underlying neurobiology of the altered pathways involved in disease development. In this review, we examine the current use of mouse models to study PM and FXTAS, focusing on recent advances in the field. Specifically, we will discuss the construct, face, and predictive validities of these PM mouse models, the insights into the underlying disease mechanisms, and potential treatments.

Original languageEnglish (US)
Pages (from-to)611-622
Number of pages12
JournalCerebellum
Volume15
Issue number5
DOIs
StatePublished - Oct 1 2016

Keywords

  • CGG trinucleotide repeat
  • Fragile X mental retardation (FMR1) gene
  • Fragile X premutation
  • Fragile X-associated tremor/ataxia syndrome (FXTAS)
  • Mouse models
  • Neurodegenerative disorder

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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