Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome
Identifieur interne : 001728 ( PascalFrancis/Corpus ); précédent : 001727; suivant : 001729Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome
Auteurs : Jim Grigsby ; Angela G. Brega ; Maureen A. Leehey ; Glenn K. Goodrich ; Sebastien Jacquemont ; Danuta Z. Loesch ; Jennifer B. Cogswell ; Jennifer Epstein ; Rebecca Wilson ; Tristan Jardini ; Emma Gould ; Rachael E. Bennett ; David Hessl ; Susannah Cohen ; Kylee Cook ; Flora Tassone ; Paul J. Hagerman ; Randi J. HagermanSource :
- Movement disorders [ 0885-3185 ] ; 2007.
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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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| NO : | PASCAL 07-0263029 INIST |
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| ET : | Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome |
| AU : | GRIGSBY (Jim); BREGA (Angela G.); LEEHEY (Maureen A.); GOODRICH (Glenn K.); JACQUEMONT (Sebastien); 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.) |
| AF : | Department of Medicine, University of Colorado at Denver and Health Sciences Center/Aurora, Colorado/Etats-Unis (1 aut., 2 aut., 4 aut., 12 aut.); Department of Neurology, University of Colorado at Denver and Health Sciences Center/Denver, Colorado/Etats-Unis (3 aut.); Department of Medical Genetics, Centre Hospitaller Universitaire Vaudois/Lausanne/Suisse (5 aut.); School of Psychological Science, La Trobe University/Bundoora/Australie (6 aut., 11 aut.); M.I.N.D Institute, University of California, Davis Medical Center/Sacramento, California/Etats-Unis (7 aut., 10 aut., 13 aut., 14 aut., 15 aut., 18 aut.); Child Development Unit, The Children's Hospital/Denver, Colorado/Etats-Unis (8 aut., 9 aut.); Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center/Sacramento, California/Etats-Unis (13 aut.); Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine/Davis, California/Etats-Unis (16 aut., 17 aut.); Departinent of Pediatrics, University of California, Davis Medical Center/Sacramento, California/Etats-Unis (18 aut.) |
| DT : | Publication en série; Niveau analytique |
| SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 5; Pp. 645-650; Bibl. 40 ref. |
| LA : | Anglais |
| EA : | 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. |
| CC : | 002B17; 002B17G; 002B17A01 |
| FD : | Système nerveux pathologie; Trouble cognition; X fragile syndrome; Tremblement; Ataxie; Cognition; Trinucléotide; Fonction exécutive |
| FG : | Fragilité chromosomique; Mouvement involontaire; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie |
| ED : | Nervous system diseases; Cognitive disorder; Fragile X syndrome; Tremor; Ataxia; Cognition; Trinucleotide; Executive function |
| EG : | Chromosome fragility; Involuntary movement; Neurological disorder; Cerebral disorder; Central nervous system disease |
| SD : | Sistema nervioso patología; Trastorno cognitivo; X frágil síndrome; Temblor; Ataxia; Cognición; Trinucleótido; Función ejecutiva |
| LO : | INIST-20953.354000149439720070 |
| ID : | 07-0263029 |
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Brega</name><affiliation><inist:fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A." last="Leehey">Maureen A. Leehey</name><affiliation><inist:fA14 i1="02"><s1>Department of Neurology, University of Colorado at Denver and Health Sciences Center</s1><s2>Denver, Colorado</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Goodrich, Glenn K" sort="Goodrich, Glenn K" uniqKey="Goodrich G" first="Glenn K." last="Goodrich">Glenn K. 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Cogswell</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Epstein, Jennifer" sort="Epstein, Jennifer" uniqKey="Epstein J" first="Jennifer" last="Epstein">Jennifer Epstein</name><affiliation><inist:fA14 i1="06"><s1>Child Development Unit, The Children's Hospital</s1><s2>Denver, Colorado</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wilson, Rebecca" sort="Wilson, Rebecca" uniqKey="Wilson R" first="Rebecca" last="Wilson">Rebecca Wilson</name><affiliation><inist:fA14 i1="06"><s1>Child Development Unit, The Children's Hospital</s1><s2>Denver, Colorado</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Jardini, Tristan" sort="Jardini, Tristan" uniqKey="Jardini T" first="Tristan" last="Jardini">Tristan Jardini</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Gould, Emma" sort="Gould, Emma" uniqKey="Gould E" first="Emma" last="Gould">Emma Gould</name><affiliation><inist:fA14 i1="04"><s1>School of Psychological Science, La Trobe University</s1><s2>Bundoora</s2><s3>AUS</s3><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Bennett, Rachael E" sort="Bennett, Rachael E" uniqKey="Bennett R" first="Rachael E." last="Bennett">Rachael E. Bennett</name><affiliation><inist:fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hessl, David" sort="Hessl, David" uniqKey="Hessl D" first="David" last="Hessl">David Hessl</name><affiliation><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></inist:fA14></affiliation><affiliation><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></affiliation></author><author><name sortKey="Cohen, Susannah" sort="Cohen, Susannah" uniqKey="Cohen S" first="Susannah" last="Cohen">Susannah Cohen</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Cook, Kylee" sort="Cook, Kylee" uniqKey="Cook K" first="Kylee" last="Cook">Kylee Cook</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Hagerman, Paul J" sort="Hagerman, Paul J" uniqKey="Hagerman P" first="Paul J." last="Hagerman">Paul J. Hagerman</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J." last="Hagerman">Randi J. Hagerman</name><affiliation><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></inist:fA14></affiliation><affiliation><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></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0263029</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0263029 INIST</idno><idno type="RBID">Pascal:07-0263029</idno><idno type="wicri:Area/PascalFrancis/Corpus">001728</idno></publicationStmt><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><inist:fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Brega, Angela G" sort="Brega, Angela G" uniqKey="Brega A" first="Angela G." last="Brega">Angela G. Brega</name><affiliation><inist:fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A." last="Leehey">Maureen A. Leehey</name><affiliation><inist:fA14 i1="02"><s1>Department of Neurology, University of Colorado at Denver and Health Sciences Center</s1><s2>Denver, Colorado</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Goodrich, Glenn K" sort="Goodrich, Glenn K" uniqKey="Goodrich G" first="Glenn K." last="Goodrich">Glenn K. Goodrich</name><affiliation><inist:fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sebastien" last="Jacquemont">Sebastien Jacquemont</name><affiliation><inist:fA14 i1="03"><s1>Department of Medical Genetics, Centre Hospitaller Universitaire Vaudois</s1><s2>Lausanne</s2><s3>CHE</s3><sZ>5 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Loesch, Danuta Z" sort="Loesch, Danuta Z" uniqKey="Loesch D" first="Danuta Z." last="Loesch">Danuta Z. Loesch</name><affiliation><inist:fA14 i1="04"><s1>School of Psychological Science, La Trobe University</s1><s2>Bundoora</s2><s3>AUS</s3><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Cogswell, Jennifer B" sort="Cogswell, Jennifer B" uniqKey="Cogswell J" first="Jennifer B." last="Cogswell">Jennifer B. Cogswell</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Epstein, Jennifer" sort="Epstein, Jennifer" uniqKey="Epstein J" first="Jennifer" last="Epstein">Jennifer Epstein</name><affiliation><inist:fA14 i1="06"><s1>Child Development Unit, The Children's Hospital</s1><s2>Denver, Colorado</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wilson, Rebecca" sort="Wilson, Rebecca" uniqKey="Wilson R" first="Rebecca" last="Wilson">Rebecca Wilson</name><affiliation><inist:fA14 i1="06"><s1>Child Development Unit, The Children's Hospital</s1><s2>Denver, Colorado</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Jardini, Tristan" sort="Jardini, Tristan" uniqKey="Jardini T" first="Tristan" last="Jardini">Tristan Jardini</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Gould, Emma" sort="Gould, Emma" uniqKey="Gould E" first="Emma" last="Gould">Emma Gould</name><affiliation><inist:fA14 i1="04"><s1>School of Psychological Science, La Trobe University</s1><s2>Bundoora</s2><s3>AUS</s3><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Bennett, Rachael E" sort="Bennett, Rachael E" uniqKey="Bennett R" first="Rachael E." last="Bennett">Rachael E. Bennett</name><affiliation><inist:fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hessl, David" sort="Hessl, David" uniqKey="Hessl D" first="David" last="Hessl">David Hessl</name><affiliation><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></inist:fA14></affiliation><affiliation><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></affiliation></author><author><name sortKey="Cohen, Susannah" sort="Cohen, Susannah" uniqKey="Cohen S" first="Susannah" last="Cohen">Susannah Cohen</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Cook, Kylee" sort="Cook, Kylee" uniqKey="Cook K" first="Kylee" last="Cook">Kylee Cook</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Hagerman, Paul J" sort="Hagerman, Paul J" uniqKey="Hagerman P" first="Paul J." last="Hagerman">Paul J. Hagerman</name><affiliation><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></inist:fA14></affiliation></author><author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J." last="Hagerman">Randi J. Hagerman</name><affiliation><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></inist:fA14></affiliation><affiliation><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></affiliation></author></analytic><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></keywords></textClass></profileDesc></teiHeader><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></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>22</s2></fA05><fA06><s2>5</s2></fA06><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></fA11><fA11 i1="03" i2="1"><s1>LEEHEY (Maureen A.)</s1></fA11><fA11 i1="04" i2="1"><s1>GOODRICH (Glenn K.)</s1></fA11><fA11 i1="05" i2="1"><s1>JACQUEMONT (Sebastien)</s1></fA11><fA11 i1="06" i2="1"><s1>LOESCH (Danuta Z.)</s1></fA11><fA11 i1="07" i2="1"><s1>COGSWELL (Jennifer B.)</s1></fA11><fA11 i1="08" i2="1"><s1>EPSTEIN (Jennifer)</s1></fA11><fA11 i1="09" i2="1"><s1>WILSON (Rebecca)</s1></fA11><fA11 i1="10" i2="1"><s1>JARDINI (Tristan)</s1></fA11><fA11 i1="11" i2="1"><s1>GOULD (Emma)</s1></fA11><fA11 i1="12" i2="1"><s1>BENNETT (Rachael E.)</s1></fA11><fA11 i1="13" i2="1"><s1>HESSL (David)</s1></fA11><fA11 i1="14" i2="1"><s1>COHEN (Susannah)</s1></fA11><fA11 i1="15" i2="1"><s1>COOK (Kylee)</s1></fA11><fA11 i1="16" i2="1"><s1>TASSONE (Flora)</s1></fA11><fA11 i1="17" i2="1"><s1>HAGERMAN (Paul J.)</s1></fA11><fA11 i1="18" i2="1"><s1>HAGERMAN (Randi J.)</s1></fA11><fA14 i1="01"><s1>Department of Medicine, University of Colorado at Denver and Health Sciences Center</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurology, University of Colorado at Denver and Health Sciences Center</s1><s2>Denver, Colorado</s2><s3>USA</s3><sZ>3 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Medical Genetics, Centre Hospitaller Universitaire Vaudois</s1><s2>Lausanne</s2><s3>CHE</s3><sZ>5 aut.</sZ></fA14><fA14 i1="04"><s1>School of Psychological Science, La Trobe University</s1><s2>Bundoora</s2><s3>AUS</s3><sZ>6 aut.</sZ><sZ>11 aut.</sZ></fA14><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></fA14><fA14 i1="06"><s1>Child Development Unit, The Children's Hospital</s1><s2>Denver, Colorado</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><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></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></fA14><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></fA14><fA20><s1>645-650</s1></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000149439720070</s5></fA43><fA44><s0>0000</s0><s1>© 2007 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>40 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>07-0263029</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><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></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC02 i1="03" i2="X"><s0>002B17A01</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Trouble cognition</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Cognitive disorder</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Trastorno cognitivo</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>X fragile syndrome</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Fragile X syndrome</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>X frágil síndrome</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Tremblement</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Tremor</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Temblor</s0><s5>04</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Ataxie</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Ataxia</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Ataxia</s0><s5>05</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Cognition</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Cognition</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Cognición</s0><s5>09</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Trinucléotide</s0><s5>10</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Trinucleotide</s0><s5>10</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Trinucleótido</s0><s5>10</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Fonction exécutive</s0><s5>11</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Executive function</s0><s5>11</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Función ejecutiva</s0><s5>11</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Fragilité chromosomique</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Chromosome fragility</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Fragilidad cromosómica</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>41</s5></fC07><fN21><s1>176</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 07-0263029 INIST</NO><ET>Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome</ET><AU>GRIGSBY (Jim); BREGA (Angela G.); LEEHEY (Maureen A.); GOODRICH (Glenn K.); JACQUEMONT (Sebastien); 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.)</AU><AF>Department of Medicine, University of Colorado at Denver and Health Sciences Center/Aurora, Colorado/Etats-Unis (1 aut., 2 aut., 4 aut., 12 aut.); Department of Neurology, University of Colorado at Denver and Health Sciences Center/Denver, Colorado/Etats-Unis (3 aut.); Department of Medical Genetics, Centre Hospitaller Universitaire Vaudois/Lausanne/Suisse (5 aut.); School of Psychological Science, La Trobe University/Bundoora/Australie (6 aut., 11 aut.); M.I.N.D Institute, University of California, Davis Medical Center/Sacramento, California/Etats-Unis (7 aut., 10 aut., 13 aut., 14 aut., 15 aut., 18 aut.); Child Development Unit, The Children's Hospital/Denver, Colorado/Etats-Unis (8 aut., 9 aut.); Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center/Sacramento, California/Etats-Unis (13 aut.); Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine/Davis, California/Etats-Unis (16 aut., 17 aut.); Departinent of Pediatrics, University of California, Davis Medical Center/Sacramento, California/Etats-Unis (18 aut.)</AF><DT>Publication en série; Niveau analytique</DT><SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 5; Pp. 645-650; Bibl. 40 ref.</SO><LA>Anglais</LA><EA>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.</EA><CC>002B17; 002B17G; 002B17A01</CC><FD>Système nerveux pathologie; Trouble cognition; X fragile syndrome; Tremblement; Ataxie; Cognition; Trinucléotide; Fonction exécutive</FD><FG>Fragilité chromosomique; Mouvement involontaire; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie</FG><ED>Nervous system diseases; Cognitive disorder; Fragile X syndrome; Tremor; Ataxia; Cognition; Trinucleotide; Executive function</ED><EG>Chromosome fragility; Involuntary movement; Neurological disorder; Cerebral disorder; Central nervous system disease</EG><SD>Sistema nervioso patología; Trastorno cognitivo; X frágil síndrome; Temblor; Ataxia; Cognición; Trinucleótido; Función ejecutiva</SD><LO>INIST-20953.354000149439720070</LO><ID>07-0263029</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
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