The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome

Angela G. Brega, Glenn Goodrich, Rachael E. Bennett, David R Hessl, Karen Engle, Maureen A. Leehey, Lanee S. Bounds, Marsha J. Paulich, Randi J Hagerman, Paul J Hagerman, Jennifer B. Cogswell, Flora Tassone, Ann Reynolds, Robert Kooken, Michael Kenny, Jim Grigsby

Research output: Contribution to journalArticlepeer-review

66 Scopus citations

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation trinucleotide repeat expansion in the fragile X mental retardation 1 gene. Symptoms include gait ataxia, action tremor, and cognitive impairment. The objectives of the study were to clarify the nature of the dysexecutive syndrome observed in FXTAS and to assess the contribution of executive impairment to deficits in nonexecutive cognitive functions. Compared to controls, men with FXTAS demonstrated significant executive impairment, which was found to mediate group differences in most other cognitive abilities. Asymptomatic premutation carriers performed similarly to controls on all but two measures of executive functioning. These findings suggest that the impairment of nonexecutive cognitive skills in FXTAS is in large part secondary to executive dysfunction.

Original languageEnglish (US)
Pages (from-to)853-869
Number of pages17
JournalJournal of Clinical and Experimental Neuropsychology
Volume30
Issue number8
DOIs
StatePublished - Apr 2008

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Clinical Psychology

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