MovDisordV3, Main, Merge, bibRecord, 003B70

Progression of tremor and ataxia in male carriers of the FMR1 premutation

Identifieur interne : 003B70 ( Main/Merge ); précédent : 003B69; suivant : 003B71

Progression 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.

RBID : ISTEX:8D65DAB41431451B5DA1A5663D5349A042E14464

English descriptors

KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Ataxia (epidemiology), Ataxia (genetics), Ataxia (physiopathology), Chromosomes, Human, X (genetics), Disease Progression, FXTAS, Follow-Up Studies, Fragile X Mental Retardation Protein (genetics), Fragile X Mental Retardation Protein (physiology), Gene Silencing (physiology), Heterozygote, Humans, Male, Middle Aged, Point Mutation (genetics), Retrospective Studies, Severity of Illness Index, Time Factors, 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:

https://api.istex.fr/document/8D65DAB41431451B5DA1A5663D5349A042E14464/fulltext/pdf

DOI: 10.1002/mds.21252

Links to Exploration step

ISTEX:8D65DAB41431451B5DA1A5663D5349A042E14464

Le document en format XML

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<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Ataxia (epidemiology)</term>
<term>Ataxia (genetics)</term>
<term>Ataxia (physiopathology)</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>Gene Silencing (physiology)</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Point Mutation (genetics)</term>
<term>Retrospective Studies</term>
<term>Severity of Illness Index</term>
<term>Time Factors</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>
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<term>Tremor</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term>
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<term>Tremor</term>
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<term>Gene Silencing</term>
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<term>Age of Onset</term>
<term>Aged</term>
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<term>Disease Progression</term>
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<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>
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<author><name sortKey="Zhang, Lin" sort="Zhang, Lin" uniqKey="Zhang L" first="Lin" last="Zhang">Lin Zhang</name>
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<wicri:regionArea>Department of Neurology, University of California at Davis School of Medicine, Sacramento, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
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<author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</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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<wicri:regionArea>Department of Pathology, University of California at Davis Medical Center, Sacramento, California</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Reynolds, Ann" sort="Reynolds, Ann" uniqKey="Reynolds A" first="Ann" last="Reynolds">Ann Reynolds</name>
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<placeName><region type="state">Colorado</region>
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</author>
<author><name sortKey="Lara, Rebecca" sort="Lara, Rebecca" uniqKey="Lara R" first="Rebecca" last="Lara">Rebecca Lara</name>
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<placeName><region type="state">Illinois</region>
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</affiliation>
</author>
<author><name sortKey="Cogswell, Jennifer" sort="Cogswell, Jennifer" uniqKey="Cogswell J" first="Jennifer" last="Cogswell">Jennifer Cogswell</name>
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<wicri:regionArea>M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
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</affiliation>
</author>
<author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sebastien" last="Jacquemont">Sebastien Jacquemont</name>
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<wicri:regionArea>M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California</wicri:regionArea>
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</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>
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<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>
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<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>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>FXTAS</term>
<term>ataxia</term>
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<term>tremor</term>
</keywords>
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<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>
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<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Progression of tremor and ataxia in male carriers of the FMR1 premutation.</title>
<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"><nlm:affiliation>Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262, USA. maureen.leehey@uchsc.edu</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262</wicri:regionArea>
<wicri:noRegion>Colorado 80262</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name>
</author>
<author><name sortKey="Min, Sung Joon" sort="Min, Sung Joon" uniqKey="Min S" first="Sung-Joon" last="Min">Sung-Joon Min</name>
</author>
<author><name sortKey="Hall, Deborah A" sort="Hall, Deborah A" uniqKey="Hall D" first="Deborah A" last="Hall">Deborah A. Hall</name>
</author>
<author><name sortKey="Rice, Cathlin D" sort="Rice, Cathlin D" uniqKey="Rice C" first="Cathlin D" last="Rice">Cathlin D. Rice</name>
</author>
<author><name sortKey="Zhang, Lin" sort="Zhang, Lin" uniqKey="Zhang L" first="Lin" last="Zhang">Lin Zhang</name>
</author>
<author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name>
</author>
<author><name sortKey="Greco, Claudia M" sort="Greco, Claudia M" uniqKey="Greco C" first="Claudia M" last="Greco">Claudia M. Greco</name>
</author>
<author><name sortKey="Reynolds, Ann" sort="Reynolds, Ann" uniqKey="Reynolds A" first="Ann" last="Reynolds">Ann Reynolds</name>
</author>
<author><name sortKey="Lara, Rebecca" sort="Lara, Rebecca" uniqKey="Lara R" first="Rebecca" last="Lara">Rebecca Lara</name>
</author>
<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>
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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>
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<author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name>
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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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<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">Progression of tremor and ataxia in male carriers of the FMR1 premutation.</title>
<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"><nlm:affiliation>Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262, USA. maureen.leehey@uchsc.edu</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262</wicri:regionArea>
<wicri:noRegion>Colorado 80262</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name>
</author>
<author><name sortKey="Min, Sung Joon" sort="Min, Sung Joon" uniqKey="Min S" first="Sung-Joon" last="Min">Sung-Joon Min</name>
</author>
<author><name sortKey="Hall, Deborah A" sort="Hall, Deborah A" uniqKey="Hall D" first="Deborah A" last="Hall">Deborah A. Hall</name>
</author>
<author><name sortKey="Rice, Cathlin D" sort="Rice, Cathlin D" uniqKey="Rice C" first="Cathlin D" last="Rice">Cathlin D. Rice</name>
</author>
<author><name sortKey="Zhang, Lin" sort="Zhang, Lin" uniqKey="Zhang L" first="Lin" last="Zhang">Lin Zhang</name>
</author>
<author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name>
</author>
<author><name sortKey="Greco, Claudia M" sort="Greco, Claudia M" uniqKey="Greco C" first="Claudia M" last="Greco">Claudia M. Greco</name>
</author>
<author><name sortKey="Reynolds, Ann" sort="Reynolds, Ann" uniqKey="Reynolds A" first="Ann" last="Reynolds">Ann Reynolds</name>
</author>
<author><name sortKey="Lara, Rebecca" sort="Lara, Rebecca" uniqKey="Lara R" first="Rebecca" last="Lara">Rebecca Lara</name>
</author>
<author><name sortKey="Cogswell, Jennifer" sort="Cogswell, Jennifer" uniqKey="Cogswell J" first="Jennifer" last="Cogswell">Jennifer Cogswell</name>
</author>
<author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sebastien" last="Jacquemont">Sebastien Jacquemont</name>
</author>
<author><name sortKey="Hessl, David R" sort="Hessl, David R" uniqKey="Hessl D" first="David R" last="Hessl">David R. Hessl</name>
</author>
<author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name>
</author>
<author><name sortKey="Hagerman, Randi" sort="Hagerman, Randi" uniqKey="Hagerman R" first="Randi" last="Hagerman">Randi Hagerman</name>
</author>
<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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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007" type="published">2007</date>
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<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 (epidemiology)</term>
<term>Ataxia (genetics)</term>
<term>Ataxia (physiopathology)</term>
<term>Chromosomes, Human, X (genetics)</term>
<term>Disease Progression</term>
<term>Follow-Up Studies</term>
<term>Fragile X Mental Retardation Protein (genetics)</term>
<term>Fragile X Mental Retardation Protein (physiology)</term>
<term>Gene Silencing (physiology)</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Point Mutation (genetics)</term>
<term>Retrospective Studies</term>
<term>Severity of Illness Index</term>
<term>Time Factors</term>
<term>Tremor (epidemiology)</term>
<term>Tremor (genetics)</term>
<term>Tremor (physiopathology)</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>
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<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 approximately 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>
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Movement Disorders (revue)

Progression of tremor and ataxia in male carriers of the FMR1 premutation

Progression of tremor and ataxia in male carriers of the FMR1 premutation

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	Movement Disorders (revue)
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