Progression of tremor and ataxia in male carriers of the FMR1 premutation.
Identifieur interne : 001968 ( Ncbi/Checkpoint ); précédent : 001967; suivant : 001969Progression of tremor and ataxia in male carriers of the FMR1 premutation.
Auteurs : Maureen A. Leehey [États-Unis] ; Elizabeth Berry-Kravis ; Sung-Joon Min ; Deborah A. Hall ; Cathlin D. Rice ; Lin Zhang ; Jim Grigsby ; Claudia M. Greco ; Ann Reynolds ; Rebecca Lara ; Jennifer Cogswell ; Sebastien Jacquemont ; David R. Hessl ; Flora Tassone ; Randi Hagerman ; Paul J. HagermanSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Ataxia (epidemiology), Ataxia (genetics), Ataxia (physiopathology), Chromosomes, Human, X (genetics), Disease Progression, 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).
- 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 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.
DOI: 10.1002/mds.21252
PubMed: 17133502
Affiliations:
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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. 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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></author></analytic><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></imprint></series></biblStruct></sourceDesc></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 (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></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 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></TEI><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><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="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="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sebastien" last="Jacquemont">Sebastien Jacquemont</name><name sortKey="Lara, Rebecca" sort="Lara, Rebecca" uniqKey="Lara R" first="Rebecca" last="Lara">Rebecca Lara</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="Zhang, Lin" sort="Zhang, Lin" uniqKey="Zhang L" first="Lin" last="Zhang">Lin Zhang</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A" last="Leehey">Maureen A. Leehey</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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