Progression of tremor and ataxia in male carriers of the FMRI premutation
Identifieur interne : 004104 ( Main/Merge ); précédent : 004103; suivant : 004105Progression of tremor and ataxia in male carriers of the FMRI premutation
Auteurs : Maureen A. Leehey [États-Unis] ; Elizabeth Berry-Kravis [États-Unis] ; Sung-Joon Min [États-Unis] ; Deborah A. Hall [États-Unis] ; Cathlin D. Rice [États-Unis] ; LIN ZHANG [États-Unis] ; Jim Grigsby [États-Unis] ; Claudia M. Greco [États-Unis] ; Ann Reynolds [États-Unis] ; Rebecca Lara [États-Unis] ; Jennifer Cogswell [États-Unis] ; Sebastien Jacquemont [Suisse] ; David R. Hessl [États-Unis] ; Flora Tassone [États-Unis] ; Randi Hagerman [États-Unis] ; Paul J. Hagerman [États-Unis]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
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English descriptors
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Abstract
Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy. The natural history of FXTAS is largely unknown. To address this issue, a family-based, retrospective, longitudinal study was conducted with a cohort of 55 male premutation carriers. Analysis of the progression of the major motor signs of FXTAS, tremor and ataxia, shows that tremor usually occurs first, with median onset at ∼60 years of age. From the onset of the initial motor sign, median delay of onset of ataxia was 2 years; onset of falls, 6 years; dependence on a walking aid, 15 years; and death, 21 years. Preliminary data on life expectancy are variable, with a range from 5 to 25 years.
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Pascal:07-0133244Le document en format XML
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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>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Progression of tremor and ataxia in male carriers of the FMRI premutation</title>
<author><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A." last="Leehey">Maureen A. Leehey</name>
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<author><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Departments of Neurological Sciences, Pediatrics, and Biochemistry, RUSH University Medical Center</s1>
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<author><name sortKey="Min, Sung Joon" sort="Min, Sung Joon" uniqKey="Min S" first="Sung-Joon" last="Min">Sung-Joon Min</name>
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<author><name sortKey="Hall, Deborah A" sort="Hall, Deborah A" uniqKey="Hall D" first="Deborah A." last="Hall">Deborah A. Hall</name>
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<author><name sortKey="Rice, Cathlin D" sort="Rice, Cathlin D" uniqKey="Rice C" first="Cathlin D." last="Rice">Cathlin D. Rice</name>
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<author><name sortKey="Lin Zhang" sort="Lin Zhang" uniqKey="Lin Zhang" last="Lin Zhang">LIN ZHANG</name>
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<author><name sortKey="Greco, Claudia M" sort="Greco, Claudia M" uniqKey="Greco C" first="Claudia M." last="Greco">Claudia M. Greco</name>
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<author><name sortKey="Reynolds, Ann" sort="Reynolds, Ann" uniqKey="Reynolds A" first="Ann" last="Reynolds">Ann Reynolds</name>
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<author><name sortKey="Lara, Rebecca" sort="Lara, Rebecca" uniqKey="Lara R" first="Rebecca" last="Lara">Rebecca Lara</name>
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<author><name sortKey="Cogswell, Jennifer" sort="Cogswell, Jennifer" uniqKey="Cogswell J" first="Jennifer" last="Cogswell">Jennifer Cogswell</name>
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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="3"><inist:fA14 i1="08"><s1>Service de Génétique, Centre Hospitalier Universitaire Vaudois</s1>
<s2>Lausanne</s2>
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<author><name sortKey="Hessl, David R" sort="Hessl, David R" uniqKey="Hessl D" first="David R." last="Hessl">David R. Hessl</name>
<affiliation wicri:level="2"><inist:fA14 i1="07"><s1>M.I.N.D. Institute, University of California at Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
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<placeName><region type="state">Californie</region>
</placeName>
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<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
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<placeName><region type="state">Californie</region>
</placeName>
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</author>
<author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name>
<affiliation wicri:level="2"><inist:fA14 i1="07"><s1>M.I.N.D. Institute, University of California at Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
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<placeName><region type="state">Californie</region>
</placeName>
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<affiliation wicri:level="2"><inist:fA14 i1="10"><s1>Department of Biochemistry and Molecular Medicine, University of California at Davis School of Medicine</s1>
<s2>Davis, California</s2>
<s3>USA</s3>
<sZ>14 aut.</sZ>
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<author><name sortKey="Hagerman, Randi" sort="Hagerman, Randi" uniqKey="Hagerman R" first="Randi" last="Hagerman">Randi Hagerman</name>
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<s2>Sacramento, California</s2>
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<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="11"><s1>Department of Pediatrics, University of California at Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</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 wicri:level="2"><inist:fA14 i1="10"><s1>Department of Biochemistry and Molecular Medicine, University of California at Davis School of Medicine</s1>
<s2>Davis, California</s2>
<s3>USA</s3>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</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>Carrier</term>
<term>Fragile X syndrome</term>
<term>Nervous system diseases</term>
<term>Nuclear magnetic resonance imaging</term>
<term>Tremor</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Tremblement</term>
<term>Ataxie</term>
<term>X fragile syndrome</term>
<term>Porteur</term>
<term>Imagerie RMN</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy. The natural history of FXTAS is largely unknown. To address this issue, a family-based, retrospective, longitudinal study was conducted with a cohort of 55 male premutation carriers. Analysis of the progression of the major motor signs of FXTAS, tremor and ataxia, shows that tremor usually occurs first, with median onset at ∼60 years of age. From the onset of the initial motor sign, median delay of onset of ataxia was 2 years; onset of falls, 6 years; dependence on a walking aid, 15 years; and death, 21 years. Preliminary data on life expectancy are variable, with a range from 5 to 25 years.</div>
</front>
</TEI>
<affiliations><list><country><li>Suisse</li>
<li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Canton de Vaud</li>
<li>Colorado</li>
<li>Illinois</li>
</region>
<settlement><li>Lausanne</li>
</settlement>
</list>
<tree><country name="États-Unis"><region name="Colorado"><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A." last="Leehey">Maureen A. Leehey</name>
</region>
<name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name>
<name sortKey="Cogswell, Jennifer" sort="Cogswell, Jennifer" uniqKey="Cogswell J" first="Jennifer" last="Cogswell">Jennifer Cogswell</name>
<name sortKey="Greco, Claudia M" sort="Greco, Claudia M" uniqKey="Greco C" first="Claudia M." last="Greco">Claudia M. Greco</name>
<name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name>
<name sortKey="Hagerman, Paul J" sort="Hagerman, Paul J" uniqKey="Hagerman P" first="Paul J." last="Hagerman">Paul J. Hagerman</name>
<name sortKey="Hagerman, Randi" sort="Hagerman, Randi" uniqKey="Hagerman R" first="Randi" last="Hagerman">Randi Hagerman</name>
<name sortKey="Hagerman, Randi" sort="Hagerman, Randi" uniqKey="Hagerman R" first="Randi" last="Hagerman">Randi Hagerman</name>
<name sortKey="Hall, Deborah A" sort="Hall, Deborah A" uniqKey="Hall D" first="Deborah A." last="Hall">Deborah A. Hall</name>
<name sortKey="Hessl, David R" sort="Hessl, David R" uniqKey="Hessl D" first="David R." last="Hessl">David R. Hessl</name>
<name sortKey="Hessl, David R" sort="Hessl, David R" uniqKey="Hessl D" first="David R." last="Hessl">David R. Hessl</name>
<name sortKey="Lara, Rebecca" sort="Lara, Rebecca" uniqKey="Lara R" first="Rebecca" last="Lara">Rebecca Lara</name>
<name sortKey="Lin Zhang" sort="Lin Zhang" uniqKey="Lin Zhang" last="Lin Zhang">LIN ZHANG</name>
<name sortKey="Min, Sung Joon" sort="Min, Sung Joon" uniqKey="Min S" first="Sung-Joon" last="Min">Sung-Joon Min</name>
<name sortKey="Reynolds, Ann" sort="Reynolds, Ann" uniqKey="Reynolds A" first="Ann" last="Reynolds">Ann Reynolds</name>
<name sortKey="Rice, Cathlin D" sort="Rice, Cathlin D" uniqKey="Rice C" first="Cathlin D." last="Rice">Cathlin D. Rice</name>
<name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name>
<name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name>
</country>
<country name="Suisse"><region name="Canton de Vaud"><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sebastien" last="Jacquemont">Sebastien Jacquemont</name>
</region>
</country>
</tree>
</affiliations>
</record>
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