Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome

Jim Grigsby, Angela G. Brega, Maureen A. Leehey, Glenn K. Goodrich, Sébastien Jacquemont, Danuta Z. Loesch, Jennifer B. Cogswell, Jennifer Epstein, Rebecca Wilson, Tristan Jardini, Emma Gould, Rachael E. Bennett, David R Hessl, Susannah Cohen, Kylee Cook, Flora Tassone, Paul J Hagerman, Randi J Hagerman

Research output: Contribution to journalArticlepeer-review

68 Scopus citations


The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 men with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS-III; verbal IQ, performance [non-verbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type.

Original languageEnglish (US)
Pages (from-to)645-650
Number of pages6
JournalMovement Disorders
Issue number5
StatePublished - Apr 15 2007


  • Cognition
  • Executive cognitive function
  • Fragile X
  • Premutation
  • Trinucleotide repeats

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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