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Impairment of executive cognitive functioning in males with fragile X‐associated tremor/ataxia syndrome
Author(s) -
Grigsby Jim,
Brega Angela G.,
Leehey Maureen A.,
Goodrich Glenn K.,
Jacquemont Sébastien,
Loesch Danuta Z.,
Cogswell Jennifer B.,
Epstein Jennifer,
Wilson Rebecca,
Jardini Tristan,
Gould Emma,
Bennett Rachael E.,
Hessl David,
Cohen Susannah,
Cook Kylee,
Tassone Flora,
Hagerman Paul J.,
Hagerman Randi J.
Publication year - 2007
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21359
Subject(s) - psychology , ataxia , parkinsonism , wechsler adult intelligence scale , dementia , audiology , fmr1 , neuropsychology , frontotemporal dementia , gait ataxia , spinocerebellar ataxia , cognition , fragile x syndrome , executive functions , psychiatry , medicine , disease , biochemistry , chemistry , fragile x , gene
Abstract The fragile X‐associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 ( FMR1 ) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 men with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS‐III; verbal IQ, performance [nonverbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type. © 2007 Movement Disorder Society