title: The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.
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.
authors.affiliation: Department of Medicine, University of Colorado, Denver, Aurora, CO, USA.
authors.forename: Angela G
authors.initials: AG
authors.lastname: Brega
authors.forename: Glenn
authors.initials: G
authors.lastname: Goodrich
authors.forename: Rachael E
authors.initials: RE
authors.lastname: Bennett
authors.forename: David
authors.initials: D
authors.lastname: Hessl
authors.forename: Karen
authors.initials: K
authors.lastname: Engle
authors.forename: Maureen A
authors.initials: MA
authors.lastname: Leehey
authors.forename: Lanee S
authors.initials: LS
authors.lastname: Bounds
authors.forename: Marsha J
authors.initials: MJ
authors.lastname: Paulich
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Hagerman
authors.forename: Jennifer B
authors.initials: JB
authors.lastname: Cogswell
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Ann
authors.initials: A
authors.lastname: Reynolds
authors.forename: Robert
authors.initials: R
authors.lastname: Kooken
authors.forename: Michael
authors.initials: M
authors.lastname: Kenny
authors.forename: Jim
authors.initials: J
authors.lastname: Grigsby
mesh_terms: D000368:Aged; D001259:Ataxia / Q000150:complications*; D003072:Cognition Disorders / Q000209:etiology*; D056344:Executive Function / Q000502:physiology*; D005600:Fragile X Syndrome / Q000150:complications*; D006801:Humans; D008297:Male; D008568:Memory / Q000502:physiology; D008570:Memory, Short-Term / Q000502:physiology; D008606:Mental Processes / Q000502:physiology; D009483:Neuropsychological Tests; D012660:Semantics; D014706:Verbal Learning / Q000502:physiology