Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome

Details

Serval ID
serval:BIB_5DB63D2675D1
Type
Article: article from journal or magazin.
Collection
Publications
Title
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome
Journal
Movement Disorders
Author(s)
Grigsby  J., Brega  A. G., Leehey  M. A., Goodrich  G. K., Jacquemont  S., Loesch  D. Z., Cogswell  J. B., Epstein  J., Wilson  R., Jardini  T., Gould  E., Bennett  R. E., Hessl  D., Cohen  S., Cook  K., Tassone  F., Hagerman  P. J., Hagerman  R. J.
ISSN
0885-3185
Publication state
Published
Issued date
04/2007
Peer-reviewed
Oui
Volume
22
Number
5
Pages
645-50
Notes
Journal Article
Research Support, N.I.H., Extramural --- Old month value: Apr 15
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.
Keywords
Adult Aged Cognition Disorders/*diagnosis/genetics/psychology DNA Mutational Analysis Diagnosis, Differential Fragile X Mental Retardation Protein/genetics Fragile X Syndrome/*diagnosis/genetics/psychology Humans Intelligence/genetics Male Middle Aged Neuropsychological Tests *Problem Solving Promoter Regions (Genetics) Spinocerebellar Degenerations/*diagnosis/genetics/psychology Tremor/*diagnosis/genetics/psychology Trinucleotide Repeats
Pubmed
Web of science
Create date
28/02/2008 10:42
Last modification date
20/08/2019 14:15
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