Progression of tremor and ataxia in male carriers of the FMR1 premutation
Identifieur interne : 002C48 ( Main/Exploration ); précédent : 002C47; suivant : 002C49Progression of tremor and ataxia in male carriers of the FMR1 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 ] ; 2007-01-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Ataxia, Ataxia (epidemiology), Ataxia (genetics), Ataxia (physiopathology), Carrier, Chromosomes, Human, X (genetics), Disease Progression, FXTAS, Follow-Up Studies, Fragile X Mental Retardation Protein (genetics), Fragile X Mental Retardation Protein (physiology), Fragile X syndrome, Gene Silencing (physiology), Heterozygote, Humans, Male, Middle Aged, Nervous system diseases, Nuclear magnetic resonance imaging, Point Mutation (genetics), Retrospective Studies, Severity of Illness Index, Time Factors, Tremor, Tremor (epidemiology), Tremor (genetics), Tremor (physiopathology), ataxia, fragile X‐associated tremor/ataxia syndrome, natural history, tremor.
- MESH :
- chemical , genetics : Fragile X Mental Retardation Protein.
- epidemiology : Ataxia, Tremor.
- genetics : Ataxia, Chromosomes, Human, X, Point Mutation, Tremor.
- chemical , physiology : Fragile X Mental Retardation Protein, Gene Silencing.
- physiopathology : Ataxia, Tremor.
- Adult, Age of Onset, Aged, Aged, 80 and over, Disease Progression, Follow-Up Studies, Heterozygote, Humans, Male, Middle Aged, Retrospective Studies, Severity of Illness Index, Time Factors.
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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21252
Affiliations:
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Leehey</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Colorado at Denver and Health Sciences Center (UCDHSC), Denver, Colorado</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Berry Ravis, Elizabeth" sort="Berry Ravis, Elizabeth" uniqKey="Berry Ravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurological Sciences, Pediatrics, and Biochemistry, RUSH University Medical Center, Chicago, Illinois</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Min, Sung Oon" sort="Min, Sung Oon" uniqKey="Min S" first="Sung-Joon" last="Min">Sung-Joon Min</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Health Care Policy and Research, Department of Medicine, UCDHSC, Denver, Colorado</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Hall, Deborah A" sort="Hall, Deborah A" uniqKey="Hall D" first="Deborah A." last="Hall">Deborah A. Hall</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Colorado at Denver and Health Sciences Center (UCDHSC), Denver, Colorado</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Rice, Cathlin D" sort="Rice, Cathlin D" uniqKey="Rice C" first="Cathlin D." last="Rice">Cathlin D. Rice</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Colorado at Denver and Health Sciences Center (UCDHSC), Denver, Colorado</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Zhang, Lin" sort="Zhang, Lin" uniqKey="Zhang L" first="Lin" last="Zhang">Lin Zhang</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of California at Davis School of Medicine, Sacramento, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Health Care Policy and Research, Department of Medicine, UCDHSC, Denver, Colorado</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Greco, Claudia M" sort="Greco, Claudia M" uniqKey="Greco C" first="Claudia M." last="Greco">Claudia M. 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Institute, University of California at Davis Medical Center, Sacramento, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sebastien" last="Jacquemont">Sebastien Jacquemont</name><affiliation wicri:level="3"><country xml:lang="fr">Suisse</country><wicri:regionArea>Service de Génétique, Centre Hospitalier Universitaire Vaudois, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><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"><country xml:lang="fr">États-Unis</country><wicri:regionArea>M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, University of California Davis Medical Center, Sacramento, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biochemistry and Molecular Medicine, University of California at Davis School of Medicine, Davis, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Hagerman, Randi" sort="Hagerman, Randi" uniqKey="Hagerman R" first="Randi" last="Hagerman">Randi Hagerman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California</wicri:regionArea><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"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biochemistry and Molecular Medicine, University of California at Davis School of Medicine, Davis, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-01-15">2007-01-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="203">203</biblScope><biblScope unit="page" to="206">206</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">8D65DAB41431451B5DA1A5663D5349A042E14464</idno><idno type="DOI">10.1002/mds.21252</idno><idno type="ArticleID">MDS21252</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Ataxia</term><term>Ataxia (epidemiology)</term><term>Ataxia (genetics)</term><term>Ataxia (physiopathology)</term><term>Carrier</term><term>Chromosomes, Human, X (genetics)</term><term>Disease Progression</term><term>FXTAS</term><term>Follow-Up Studies</term><term>Fragile X Mental Retardation Protein (genetics)</term><term>Fragile X Mental Retardation Protein (physiology)</term><term>Fragile X syndrome</term><term>Gene Silencing (physiology)</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Nuclear magnetic resonance imaging</term><term>Point Mutation (genetics)</term><term>Retrospective Studies</term><term>Severity of Illness Index</term><term>Time Factors</term><term>Tremor</term><term>Tremor (epidemiology)</term><term>Tremor (genetics)</term><term>Tremor (physiopathology)</term><term>ataxia</term><term>fragile X‐associated tremor/ataxia syndrome</term><term>natural history</term><term>tremor</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fragile X Mental Retardation Protein</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Ataxia</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term><term>Chromosomes, Human, X</term><term>Point Mutation</term><term>Tremor</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Fragile X Mental Retardation Protein</term><term>Gene Silencing</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia</term><term>Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Disease Progression</term><term>Follow-Up Studies</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Retrospective Studies</term><term>Severity of Illness Index</term><term>Time Factors</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie</term><term>Imagerie RMN</term><term>Porteur</term><term>Système nerveux pathologie</term><term>Tremblement</term><term>X fragile syndrome</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2006 Movement Disorder Society</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 Ravis, Elizabeth" sort="Berry Ravis, Elizabeth" uniqKey="Berry Ravis 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="Min, Sung Oon" sort="Min, Sung Oon" 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><name sortKey="Zhang, Lin" sort="Zhang, Lin" uniqKey="Zhang L" first="Lin" last="Zhang">Lin Zhang</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>Pour manipuler ce document sous Unix (Dilib)
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