MovDisordV3, PascalFrancis, Curation, bibRecord, 001513

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

Identifieur interne : 001513 ( PascalFrancis/Curation ); précédent : 001512; suivant : 001514

Progression 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.

RBID : Pascal:07-0133244

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Tremblement, Ataxie, X fragile syndrome, Porteur, Imagerie RMN.

English descriptors

KwdEn :
- Ataxia, Carrier, Fragile X syndrome, Nervous system diseases, Nuclear magnetic resonance imaging, Tremor.

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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A11	`01`	`1`		`@1 LEEHEY (Maureen A.)`
A11	`02`	`1`		`@1 BERRY-KRAVIS (Elizabeth)`
A11	`03`	`1`		`@1 MIN (Sung-Joon)`
A11	`04`	`1`		`@1 HALL (Deborah A.)`
A11	`05`	`1`		`@1 RICE (Cathlin D.)`
A11	`06`	`1`		`@1 LIN ZHANG`
A11	`07`	`1`		`@1 GRIGSBY (Jim)`
A11	`08`	`1`		`@1 GRECO (Claudia M.)`
A11	`09`	`1`		`@1 REYNOLDS (Ann)`
A11	`10`	`1`		`@1 LARA (Rebecca)`
A11	`11`	`1`		`@1 COGSWELL (Jennifer)`
A11	`12`	`1`		`@1 JACQUEMONT (Sebastien)`
A11	`13`	`1`		`@1 HESSL (David R.)`
A11	`14`	`1`		`@1 TASSONE (Flora)`
A11	`15`	`1`		`@1 HAGERMAN (Randi)`
A11	`16`	`1`		`@1 HAGERMAN (Paul J.)`
A14	`01`			`@1 Department of Neurology, University of Colorado at Denver and Health Sciences Center (UCDHSC) @2 Denver, Colorado @3 USA @Z 1 aut. @Z 4 aut. @Z 5 aut.`
A14	`02`			`@1 Departments of Neurological Sciences, Pediatrics, and Biochemistry, RUSH University Medical Center @2 Chicago, Illinois @3 USA @Z 2 aut. @Z 10 aut.`
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A14	`05`			`@1 Department of Pathology, University of California at Davis Medical Center @2 Sacramento, California @3 USA @Z 8 aut.`
A14	`06`			`@1 Department of Pediatrics, University of Colorado at Denver Health Sciences Center @2 Denver, Colorado @3 USA @Z 9 aut.`
A14	`07`			`@1 M.I.N.D. Institute, University of California at Davis Medical Center @2 Sacramento, California @3 USA @Z 11 aut. @Z 13 aut. @Z 14 aut. @Z 15 aut.`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
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C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Tremblement @5 02`
C03	`02`	`X`	`ENG`	`@0 Tremor @5 02`
C03	`02`	`X`	`SPA`	`@0 Temblor @5 02`
C03	`03`	`X`	`FRE`	`@0 Ataxie @5 03`
C03	`03`	`X`	`ENG`	`@0 Ataxia @5 03`
C03	`03`	`X`	`SPA`	`@0 Ataxia @5 03`
C03	`04`	`X`	`FRE`	`@0 X fragile syndrome @5 04`
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C03	`04`	`X`	`SPA`	`@0 X frágil síndrome @5 04`
C03	`05`	`X`	`FRE`	`@0 Porteur @5 09`
C03	`05`	`X`	`ENG`	`@0 Carrier @5 09`
C03	`05`	`X`	`SPA`	`@0 Portador @5 09`
C03	`06`	`X`	`FRE`	`@0 Imagerie RMN @5 10`
C03	`06`	`X`	`ENG`	`@0 Nuclear magnetic resonance imaging @5 10`
C03	`06`	`X`	`SPA`	`@0 Imaginería RMN @5 10`
C07	`01`	`X`	`FRE`	`@0 Mouvement involontaire @5 37`
C07	`01`	`X`	`ENG`	`@0 Involuntary movement @5 37`
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C07	`02`	`X`	`FRE`	`@0 Trouble neurologique @5 38`
C07	`02`	`X`	`ENG`	`@0 Neurological disorder @5 38`
C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 38`
C07	`03`	`X`	`FRE`	`@0 Encéphale pathologie @5 39`
C07	`03`	`X`	`ENG`	`@0 Cerebral disorder @5 39`
C07	`03`	`X`	`SPA`	`@0 Encéfalo patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Fragilité chromosomique @5 41`
C07	`05`	`X`	`ENG`	`@0 Chromosome fragility @5 41`
C07	`05`	`X`	`SPA`	`@0 Fragilidad cromosómica @5 41`
N21				`@1 085`
N44	`01`			`@1 OTO`
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Pascal:07-0133244

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><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="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="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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<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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<s2>Sacramento, California</s2>
<s3>USA</s3>
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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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<s2>Lausanne</s2>
<s3>CHE</s3>
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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="1"><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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<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Psychiatry, University of California Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name>
<affiliation wicri:level="1"><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>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><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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</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Hagerman, Randi" sort="Hagerman, Randi" uniqKey="Hagerman R" first="Randi" last="Hagerman">Randi Hagerman</name>
<affiliation wicri:level="1"><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>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><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>
</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="1"><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>
</affiliation>
</author>
</titleStmt>
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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>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Colorado at Denver and Health Sciences Center (UCDHSC)</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
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</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>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Departments of Neurological Sciences, Pediatrics, and Biochemistry, RUSH University Medical Center</s1>
<s2>Chicago, Illinois</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Min, Sung Joon" sort="Min, Sung Joon" uniqKey="Min S" first="Sung-Joon" last="Min">Sung-Joon Min</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Division of Health Care Policy and Research, Department of Medicine, UCDHSC</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</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="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Colorado at Denver and Health Sciences Center (UCDHSC)</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</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="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Colorado at Denver and Health Sciences Center (UCDHSC)</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Lin Zhang" sort="Lin Zhang" uniqKey="Lin Zhang" last="Lin Zhang">LIN ZHANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of California at Davis School of Medicine</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Division of Health Care Policy and Research, Department of Medicine, UCDHSC</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
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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>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Pathology, University of California at Davis Medical Center</s1>
<s2>Sacramento, California</s2>
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<sZ>8 aut.</sZ>
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<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Pediatrics, University of Colorado at Denver Health Sciences Center</s1>
<s2>Denver, Colorado</s2>
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<author><name sortKey="Lara, Rebecca" sort="Lara, Rebecca" uniqKey="Lara R" first="Rebecca" last="Lara">Rebecca Lara</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Departments of Neurological Sciences, Pediatrics, and Biochemistry, RUSH University Medical Center</s1>
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<author><name sortKey="Cogswell, Jennifer" sort="Cogswell, Jennifer" uniqKey="Cogswell J" first="Jennifer" last="Cogswell">Jennifer Cogswell</name>
<affiliation wicri:level="1"><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>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
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<country>États-Unis</country>
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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="1"><inist:fA14 i1="08"><s1>Service de Génétique, Centre Hospitalier Universitaire Vaudois</s1>
<s2>Lausanne</s2>
<s3>CHE</s3>
<sZ>12 aut.</sZ>
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<country>Suisse</country>
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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="1"><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>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Psychiatry, University of California Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
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<author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name>
<affiliation wicri:level="1"><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>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><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>
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<country>États-Unis</country>
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<author><name sortKey="Hagerman, Randi" sort="Hagerman, Randi" uniqKey="Hagerman R" first="Randi" last="Hagerman">Randi Hagerman</name>
<affiliation wicri:level="1"><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>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
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<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><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>
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</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="1"><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>
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<country>États-Unis</country>
</affiliation>
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</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>
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<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>
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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.</div>
</front>
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<fA11 i1="15" i2="1"><s1>HAGERMAN (Randi)</s1>
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<fA11 i1="16" i2="1"><s1>HAGERMAN (Paul J.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, University of Colorado at Denver and Health Sciences Center (UCDHSC)</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<fA14 i1="02"><s1>Departments of Neurological Sciences, Pediatrics, and Biochemistry, RUSH University Medical Center</s1>
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<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
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<fA14 i1="04"><s1>Department of Neurology, University of California at Davis School of Medicine</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Pathology, University of California at Davis Medical Center</s1>
<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Pediatrics, University of Colorado at Denver Health Sciences Center</s1>
<s2>Denver, Colorado</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>M.I.N.D. Institute, University of California at Davis Medical Center</s1>
<s2>Sacramento, California</s2>
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<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
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<fA14 i1="08"><s1>Service de Génétique, Centre Hospitalier Universitaire Vaudois</s1>
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<s2>Sacramento, California</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</fA14>
<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>
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<fA14 i1="11"><s1>Department of Pediatrics, University of California at Davis Medical Center</s1>
<s2>Sacramento, California</s2>
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<sZ>15 aut.</sZ>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
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	Movement Disorders (revue)
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Movement Disorders (revue)

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

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

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