Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome

Andreea L. Seritan, Kyoungmi Kim, Ian Benjamin, Ioana Seritan, Randi J Hagerman

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disease with motor, psychiatric, and cognitive manifestations that occurs in carriers of the fragile X mental retardation 1 (FMR1) gene premutations. This was a retrospective chart review of 196 individuals (127 men and 69 women) with FXTAS. Forty-six (23%) participants were cognitively impaired, of whom 19 (10%) had dementia. Risk factors for dementia were examined (CGG repeat size; alcohol, benzodiazepine, and opioid use; diabetes; hyperlipidemia; hypertension; hypothyroidism; obesity; sleep apnea; surgeries with general anesthesia; depression; family history of dementia). Thirteen individuals with FXTAS and dementia were then compared to 13 cognitively intact individuals matched on age, gender, and FXTAS stage. CGG repeat size was significantly higher (mean = 98.5, standard deviation [SD] = 22.2) in the dementia group, compared to the cognitively intact group (mean = 81.6, SD = 11.5; P =.0256). These results show that CGG repeat size is a risk factor for FXTAS dementia.

Original languageEnglish (US)
Pages (from-to)328-337
Number of pages10
JournalJournal of Geriatric Psychiatry and Neurology
Issue number6
StatePublished - Nov 1 2016


  • cognitive impairment
  • dementia
  • FMR1 premutation

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Psychiatry and Mental health


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