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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Le document en format XML
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<term>Ataxia (genetics)</term>
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<term>Disease Progression</term>
<term>FXTAS</term>
<term>Follow-Up Studies</term>
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<term>Fragile X Mental Retardation Protein (physiology)</term>
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<term>ataxia</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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<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>
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<name sortKey="Zhang, Lin" sort="Zhang, Lin" uniqKey="Zhang L" first="Lin" last="Zhang">Lin Zhang</name>
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<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>
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