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

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

Research output: Contribution to journalArticlepeer-review

74 Scopus citations


Objective: 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. Methods: Neurological, psychiatric and neuropsychological evaluations were performed on 15 male patients with FXTAS. Results: Seven cases were diagnosed with dementia, and seven others were diagnosed with mood and/or anxiety disorders. Twelve subjects demonstrated deficits on neuropsychological testing. Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)349-356
Number of pages8
JournalGeneral Hospital Psychiatry
Issue number4
StatePublished - Jul 2007


  • Anxiety disorder
  • Dementia
  • Fragile X premutation
  • Mood disorder

ASJC Scopus subject areas

  • Emergency Medicine
  • Medicine(all)
  • Psychiatry and Mental health


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