The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.
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.
Brega
Angela G
AG
Department of Medicine, University of Colorado, Denver, Aurora, CO, USA.
Goodrich
Glenn
G
Bennett
Rachael E
RE
Hessl
David
D
Engle
Karen
K
Leehey
Maureen A
MA
Bounds
Lanee S
LS
Paulich
Marsha J
MJ
Hagerman
Randi J
RJ
Hagerman
Paul J
PJ
Cogswell
Jennifer B
JB
Tassone
Flora
F
Reynolds
Ann
A
Kooken
Robert
R
Kenny
Michael
M
Grigsby
Jim
J
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