Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS)

Jim Grigsby, Maureen A. Leehey, Sébastien Jacquemont, James A Brunberg, Randi J Hagerman, Rebecca Wilson, Jennifer H. Epstein, Claudia M. Greco, Flora Tassone, Paul J Hagerman

Research output: Contribution to journalArticlepeer-review

43 Scopus citations


OBJECTIVE: This is the first case report of a comprehensive neuropsychologic examination of an older man with the fragile X-associated tremor-ataxia syndrome (FXTAS). BACKGROUND: FXTAS, a newly identified phenotype affecting older male carriers of the fragile X premutation allele, is a progressive disorder marked by gait ataxia, action tremor, peripheral neuropathy, executive cognitive deficits, generalized brain atrophy, and neuronal and astrocytic intranuclear inclusion bodies throughout the brain. The patient previously had undergone neurologic evaluation, molecular analysis, and magnetic resonance imaging. METHOD: The patient was administered a neuropsychologic examination, assessing motor and somatosensory functioning, visual and spatial functioning, speech and language, attention, executive abilities, learning and memory, and reasoning. RESULTS: The patient showed a pattern of cognitive impairment characterized by essentially normal speech and language, moderately impaired control of attention, and moderate to severe deficits in working memory, executive functioning, and both declarative and procedural learning. Visual and spatial abilities were relatively unimpaired, and verbal reasoning was only mildly deficient. CONCLUSIONS: The findings suggest that a cognitive disorder, with especially marked executive cognitive function and memory deficits, accompanies FXTAS. The findings in FXTAS are compared with those in several other neurodegenerative disorders.

Original languageEnglish (US)
Pages (from-to)165-171
Number of pages7
JournalCognitive and Behavioral Neurology
Issue number3
StatePublished - Sep 2006


  • Cognition disorders
  • Executive cognitive function disorders
  • Fragile X syndrome
  • Trinucleotide repeats

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Behavioral Neuroscience
  • Cognitive Neuroscience

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