Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome
Identifieur interne : 001593 ( PascalFrancis/Curation ); précédent : 001592; suivant : 001594Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome
Auteurs : Jim Grigsby [États-Unis] ; Angela G. Brega [États-Unis] ; Maureen A. Leehey [États-Unis] ; Glenn K. Goodrich [États-Unis] ; Sebastien Jacquemont [Suisse] ; Danuta Z. Loesch [Australie] ; Jennifer B. Cogswell [États-Unis] ; Jennifer Epstein [États-Unis] ; Rebecca Wilson [États-Unis] ; Tristan Jardini [États-Unis] ; Emma Gould [Australie] ; Rachael E. Bennett [États-Unis] ; David Hessl [États-Unis] ; Susannah Cohen [États-Unis] ; Kylee Cook [États-Unis] ; Flora Tassone [États-Unis] ; Paul J. Hagerman [États-Unis] ; Randi J. Hagerman [États-Unis]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
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- Pascal (Inist)
English descriptors
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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 (FMRI) 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 [non-verbal] 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.
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome</title>
<author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1>
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<author><name sortKey="Brega, Angela G" sort="Brega, Angela G" uniqKey="Brega A" first="Angela G." last="Brega">Angela G. Brega</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1>
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<author><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A." last="Leehey">Maureen A. Leehey</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Colorado at Denver and Health Sciences Center</s1>
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<author><name sortKey="Goodrich, Glenn K" sort="Goodrich, Glenn K" uniqKey="Goodrich G" first="Glenn K." last="Goodrich">Glenn K. Goodrich</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1>
<s2>Aurora, Colorado</s2>
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<author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sebastien" last="Jacquemont">Sebastien Jacquemont</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Medical Genetics, Centre Hospitaller Universitaire Vaudois</s1>
<s2>Lausanne</s2>
<s3>CHE</s3>
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<country>Suisse</country>
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<author><name sortKey="Loesch, Danuta Z" sort="Loesch, Danuta Z" uniqKey="Loesch D" first="Danuta Z." last="Loesch">Danuta Z. Loesch</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>School of Psychological Science, La Trobe University</s1>
<s2>Bundoora</s2>
<s3>AUS</s3>
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<author><name sortKey="Cogswell, Jennifer B" sort="Cogswell, Jennifer B" uniqKey="Cogswell J" first="Jennifer B." last="Cogswell">Jennifer B. Cogswell</name>
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<author><name sortKey="Epstein, Jennifer" sort="Epstein, Jennifer" uniqKey="Epstein J" first="Jennifer" last="Epstein">Jennifer Epstein</name>
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<author><name sortKey="Wilson, Rebecca" sort="Wilson, Rebecca" uniqKey="Wilson R" first="Rebecca" last="Wilson">Rebecca Wilson</name>
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<author><name sortKey="Jardini, Tristan" sort="Jardini, Tristan" uniqKey="Jardini T" first="Tristan" last="Jardini">Tristan Jardini</name>
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<author><name sortKey="Gould, Emma" sort="Gould, Emma" uniqKey="Gould E" first="Emma" last="Gould">Emma Gould</name>
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<author><name sortKey="Bennett, Rachael E" sort="Bennett, Rachael E" uniqKey="Bennett R" first="Rachael E." last="Bennett">Rachael E. Bennett</name>
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<s2>Aurora, Colorado</s2>
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<author><name sortKey="Hessl, David" sort="Hessl, David" uniqKey="Hessl D" first="David" last="Hessl">David Hessl</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>M.I.N.D Institute, University of California, Davis Medical Center</s1>
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</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
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<author><name sortKey="Cohen, Susannah" sort="Cohen, Susannah" uniqKey="Cohen S" first="Susannah" last="Cohen">Susannah Cohen</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>M.I.N.D Institute, University of California, Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
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</author>
<author><name sortKey="Cook, Kylee" sort="Cook, Kylee" uniqKey="Cook K" first="Kylee" last="Cook">Kylee Cook</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>M.I.N.D Institute, University of California, Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
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<author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine</s1>
<s2>Davis, California</s2>
<s3>USA</s3>
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<author><name sortKey="Hagerman, Paul J" sort="Hagerman, Paul J" uniqKey="Hagerman P" first="Paul J." last="Hagerman">Paul J. Hagerman</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine</s1>
<s2>Davis, California</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
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<country>États-Unis</country>
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</author>
<author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J." last="Hagerman">Randi J. Hagerman</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>M.I.N.D Institute, University of California, Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>18 aut.</sZ>
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<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Departinent of Pediatrics, University of California, Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term>
<term>Cognition</term>
<term>Cognitive disorder</term>
<term>Executive function</term>
<term>Fragile X syndrome</term>
<term>Nervous system diseases</term>
<term>Tremor</term>
<term>Trinucleotide</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Trouble cognition</term>
<term>X fragile syndrome</term>
<term>Tremblement</term>
<term>Ataxie</term>
<term>Cognition</term>
<term>Trinucléotide</term>
<term>Fonction exécutive</term>
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<front><div type="abstract" xml:lang="en">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 (FMRI) 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 [non-verbal] 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.</div>
</front>
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<fA08 i1="01" i2="1" l="ENG"><s1>Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>GRIGSBY (Jim)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>BREGA (Angela G.)</s1>
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<fA11 i1="03" i2="1"><s1>LEEHEY (Maureen A.)</s1>
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<fA11 i1="18" i2="1"><s1>HAGERMAN (Randi J.)</s1>
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<fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1>
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<sZ>4 aut.</sZ>
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<fA14 i1="02"><s1>Department of Neurology, University of Colorado at Denver and Health Sciences Center</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
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<fA14 i1="03"><s1>Department of Medical Genetics, Centre Hospitaller Universitaire Vaudois</s1>
<s2>Lausanne</s2>
<s3>CHE</s3>
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</fA14>
<fA14 i1="04"><s1>School of Psychological Science, La Trobe University</s1>
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<fA14 i1="06"><s1>Child Development Unit, The Children's Hospital</s1>
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<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine</s1>
<s2>Davis, California</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
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<fA14 i1="09"><s1>Departinent of Pediatrics, University of California, Davis Medical Center</s1>
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<fC01 i1="01" l="ENG"><s0>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 (FMRI) 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 [non-verbal] 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.</s0>
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