Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome Academic Article uri icon


  • We evaluated patients with fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder associated with a CGG repeat expansion in the premutation range in the fragile X mental retardation 1 (FMR1) gene.Neurological, psychiatric and neuropsychological evaluations were performed on 15 male patients with FXTAS.Seven cases were diagnosed with dementia, and seven others were diagnosed with mood and/or anxiety disorders. Twelve subjects demonstrated deficits on neuropsychological testing.Physicians assessing dementia patients are urged to consider this newly described syndrome, especially in patients with dementia associated with a movement disorder and in those with a family history of mental retardation. If FXTAS is a possible diagnosis, physicians may carry out FMR1 DNA testing; patients who test positive on DNA testing should undergo magnetic resonance imaging, be referred to neurology and receive genetic counseling.


  • Bourgeois, James A
  • Cogswell, Jennifer B
  • Hessl, David
  • Zhang, Lin
  • Ono, Michele Y
  • Tassone, Flora
  • Farzin, Faraz
  • Brunberg, James A
  • Grigsby, Jim
  • Hagerman, Randi J

publication date

  • July 2007