title: Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS).
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Department of Medicine, University of Colorado Health Sciences Center, Aurora, CO 80045-5701, USA. jim.grigsby@uchsc.edu
authors.forename: Jim
authors.initials: J
authors.lastname: Grigsby
authors.forename: Maureen A
authors.initials: MA
authors.lastname: Leehey
authors.forename: Sébastien
authors.initials: S
authors.lastname: Jacquemont
authors.forename: James A
authors.initials: JA
authors.lastname: Brunberg
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: Rebecca
authors.initials: R
authors.lastname: Wilson
authors.forename: Jennifer H
authors.initials: JH
authors.lastname: Epstein
authors.forename: Claudia M
authors.initials: CM
authors.lastname: Greco
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Hagerman
mesh_terms: D000368:Aged; D001259:Ataxia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D001288:Attention; D001921:Brain / Q000473:pathology; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008569:Memory Disorders / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D009483:Neuropsychological Tests; D013577:Syndrome; D014202:Tremor / Q000150:complications* / Q000235:genetics / Q000473:pathology; D018911:Trinucleotide Repeats / Q000235:genetics