MovDisordV3, PascalFrancis, Corpus, bibRecord, 001F73

Parkinsonism, FXTAS, and FMR1 premutations

Identifieur interne : 001F73 ( PascalFrancis/Corpus ); précédent : 001F72; suivant : 001F74

Parkinsonism, FXTAS, and FMR1 premutations

Auteurs : Mathias Toft ; Jan Aasly ; Gina Bisceglio ; Charles H. Adler ; Ryan J. Uitti ; Anna Krygowska-Wajs ; Timothy Lynch ; Zbigniew K. Wszolek ; Matthew J. Farrer

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:05-0149710

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinsonisme.

English descriptors

KwdEn :
- Nervous system diseases, Parkinsonism.

Abstract

The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X-associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55-200 CGG repeats). Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 20`
A06				`@2 2`
A08	`01`	`1`	`ENG`	`@1 Parkinsonism, FXTAS, and FMR1 premutations`
A11	`01`	`1`		`@1 TOFT (Mathias)`
A11	`02`	`1`		`@1 AASLY (Jan)`
A11	`03`	`1`		`@1 BISCEGLIO (Gina)`
A11	`04`	`1`		`@1 ADLER (Charles H.)`
A11	`05`	`1`		`@1 UITTI (Ryan J.)`
A11	`06`	`1`		`@1 KRYGOWSKA-WAJS (Anna)`
A11	`07`	`1`		`@1 LYNCH (Timothy)`
A11	`08`	`1`		`@1 WSZOLEK (Zbigniew K.)`
A11	`09`	`1`		`@1 FARRER (Matthew J.)`
A14	`01`			`@1 Department of Neuroscience, Mayo Clinic @2 Jacksonville, Florida @3 USA @Z 1 aut. @Z 3 aut.`
A14	`02`			`@1 Department of Neuroscience, Norwegian University of Science and Technology @2 Trondheim @3 NOR @Z 1 aut. @Z 9 aut.`
A14	`03`			`@1 Department of Neurology, St. Olav's Hospital @2 Trondheim @3 NOR @Z 2 aut.`
A14	`04`			`@1 Department of Neurology, Mayo Clinic @2 Scottsdale, Arizona @3 USA @Z 4 aut.`
A14	`05`			`@1 Department of Neurology, Mayo Clinic @2 Jacksonville, Florida @3 USA @Z 5 aut. @Z 8 aut.`
A14	`06`			`@1 Department of Neurology, Collegium Medicum, Jagiellonian University @2 Krakow @3 POL @Z 6 aut.`
A14	`07`			`@1 Department of Neurology, Mater Misericordiae Hospital @2 Dublin @3 IRL @Z 7 aut.`
A20				`@1 230-233`
A21				`@1 2005`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000126378730150`
A44				`@0 0000 @1 © 2005 INIST-CNRS. All rights reserved.`
A45				`@0 20 ref.`
A47	`01`	`1`		`@0 05-0149710`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X-associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55-200 CGG repeats). Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B22C`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
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 Parkinsonisme @2 NM @5 04`
C03	`02`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 04`
C03	`02`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 04`
N21				`@1 101`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 05-0149710 INIST
ET :	Parkinsonism, FXTAS, and FMR1 premutations
AU :	TOFT (Mathias); AASLY (Jan); BISCEGLIO (Gina); ADLER (Charles H.); UITTI (Ryan J.); KRYGOWSKA-WAJS (Anna); LYNCH (Timothy); WSZOLEK (Zbigniew K.); FARRER (Matthew J.)
AF :	Department of Neuroscience, Mayo Clinic/Jacksonville, Florida/Etats-Unis (1 aut., 3 aut.); Department of Neuroscience, Norwegian University of Science and Technology/Trondheim/Norvège (1 aut., 9 aut.); Department of Neurology, St. Olav's Hospital/Trondheim/Norvège (2 aut.); Department of Neurology, Mayo Clinic/Scottsdale, Arizona/Etats-Unis (4 aut.); Department of Neurology, Mayo Clinic/Jacksonville, Florida/Etats-Unis (5 aut., 8 aut.); Department of Neurology, Collegium Medicum, Jagiellonian University/Krakow/Pologne (6 aut.); Department of Neurology, Mater Misericordiae Hospital/Dublin/Irlande (7 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 2; Pp. 230-233; Bibl. 20 ref.
LA :	Anglais
EA :	The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X-associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55-200 CGG repeats). Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study.
CC :	002B17; 002B17G; 002B22C
FD :	Système nerveux pathologie; Parkinsonisme
ED :	Nervous system diseases; Parkinsonism
SD :	Sistema nervioso patología; Parkinson síndrome
LO :	INIST-20953.354000126378730150
ID :	05-0149710

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Pascal:05-0149710

Le document en format XML

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<author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name>
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<front><div type="abstract" xml:lang="en">The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X-associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55-200 CGG repeats). Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study.</div>
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<fA14 i1="02"><s1>Department of Neuroscience, Norwegian University of Science and Technology</s1>
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<fA14 i1="07"><s1>Department of Neurology, Mater Misericordiae Hospital</s1>
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<ET>Parkinsonism, FXTAS, and FMR1 premutations</ET>
<AU>TOFT (Mathias); AASLY (Jan); BISCEGLIO (Gina); ADLER (Charles H.); UITTI (Ryan J.); KRYGOWSKA-WAJS (Anna); LYNCH (Timothy); WSZOLEK (Zbigniew K.); FARRER (Matthew J.)</AU>
<AF>Department of Neuroscience, Mayo Clinic/Jacksonville, Florida/Etats-Unis (1 aut., 3 aut.); Department of Neuroscience, Norwegian University of Science and Technology/Trondheim/Norvège (1 aut., 9 aut.); Department of Neurology, St. Olav's Hospital/Trondheim/Norvège (2 aut.); Department of Neurology, Mayo Clinic/Scottsdale, Arizona/Etats-Unis (4 aut.); Department of Neurology, Mayo Clinic/Jacksonville, Florida/Etats-Unis (5 aut., 8 aut.); Department of Neurology, Collegium Medicum, Jagiellonian University/Krakow/Pologne (6 aut.); Department of Neurology, Mater Misericordiae Hospital/Dublin/Irlande (7 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 2; Pp. 230-233; Bibl. 20 ref.</SO>
<LA>Anglais</LA>
<EA>The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X-associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55-200 CGG repeats). Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study.</EA>
<CC>002B17; 002B17G; 002B22C</CC>
<FD>Système nerveux pathologie; Parkinsonisme</FD>
<ED>Nervous system diseases; Parkinsonism</ED>
<SD>Sistema nervioso patología; Parkinson síndrome</SD>
<LO>INIST-20953.354000126378730150</LO>
<ID>05-0149710</ID>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Parkinsonism, FXTAS, and FMR1 premutations

Parkinsonism, FXTAS, and FMR1 premutations

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