Movement Disorders (revue)

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Alpha-Synuclein Polymorphisms are Associated with Parkinson's Disease in a Saskatchewan Population

Identifieur interne : 000C71 ( PascalFrancis/Corpus ); précédent : 000C70; suivant : 000C72

Alpha-Synuclein Polymorphisms are Associated with Parkinson's Disease in a Saskatchewan Population

Auteurs : Alex Rajput ; Carles Vilarino-Güell ; Michele L. Rajput ; Owen A. Ross ; Alexandra I. Soto-Ortolaza ; Sarah J. Lincoln ; Stephanie A. Cobb ; Michael G. Heckman ; Matthew J. Farrer ; Ali Rajput

Source :

RBID : Pascal:10-0071244

Descripteurs français

English descriptors

Abstract

Alpha-synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early-onset disease in this population. The minor allele "G" at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

pA  
A01 01  1    @0 0885-3185
A03   1    @0 Mov. disord.
A05       @2 24
A06       @2 16
A08 01  1  ENG  @1 Alpha-Synuclein Polymorphisms are Associated with Parkinson's Disease in a Saskatchewan Population
A11 01  1    @1 RAJPUT (Alex)
A11 02  1    @1 VILARINO-GÜELL (Carles)
A11 03  1    @1 RAJPUT (Michele L.)
A11 04  1    @1 ROSS (Owen A.)
A11 05  1    @1 SOTO-ORTOLAZA (Alexandra I.)
A11 06  1    @1 LINCOLN (Sarah J.)
A11 07  1    @1 COBB (Stephanie A.)
A11 08  1    @1 HECKMAN (Michael G.)
A11 09  1    @1 FARRER (Matthew J.)
A11 10  1    @1 RAJPUT (Ali)
A14 01      @1 Division of Neurology, University of Saskatchewan and Saskatoon Health Region @2 Saskatoon, Saskatchewan @3 CAN @Z 1 aut. @Z 3 aut. @Z 10 aut.
A14 02      @1 Department of Neuroscience, Mayo Clinic @2 Jacksonville, Florida @3 USA @Z 2 aut. @Z 4 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut. @Z 8 aut. @Z 9 aut.
A20       @1 2411-2414
A21       @1 2009
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000190005540160
A44       @0 0000 @1 © 2010 INIST-CNRS. All rights reserved.
A45       @0 18 ref.
A47 01  1    @0 10-0071244
A60       @1 P @3 CC
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 Alpha-synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early-onset disease in this population. The minor allele "G" at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression.
C02 01  X    @0 002B17
C02 02  X    @0 002B17G
C03 01  X  FRE  @0 Maladie de Parkinson @2 NM @5 01
C03 01  X  ENG  @0 Parkinson disease @2 NM @5 01
C03 01  X  SPA  @0 Parkinson enfermedad @2 NM @5 01
C03 02  X  FRE  @0 Pathologie du système nerveux @5 02
C03 02  X  ENG  @0 Nervous system diseases @5 02
C03 02  X  SPA  @0 Sistema nervioso patología @5 02
C03 03  X  FRE  @0 Polymorphisme @5 09
C03 03  X  ENG  @0 Polymorphism @5 09
C03 03  X  SPA  @0 Polimorfismo @5 09
C07 01  X  FRE  @0 Pathologie de l'encéphale @5 37
C07 01  X  ENG  @0 Cerebral disorder @5 37
C07 01  X  SPA  @0 Encéfalo patología @5 37
C07 02  X  FRE  @0 Syndrome extrapyramidal @5 38
C07 02  X  ENG  @0 Extrapyramidal syndrome @5 38
C07 02  X  SPA  @0 Extrapiramidal síndrome @5 38
C07 03  X  FRE  @0 Maladie dégénérative @5 39
C07 03  X  ENG  @0 Degenerative disease @5 39
C07 03  X  SPA  @0 Enfermedad degenerativa @5 39
C07 04  X  FRE  @0 Pathologie du système nerveux central @5 40
C07 04  X  ENG  @0 Central nervous system disease @5 40
C07 04  X  SPA  @0 Sistema nervosio central patología @5 40
N21       @1 046
N44 01      @1 OTO
N82       @1 OTO

Format Inist (serveur)

NO : PASCAL 10-0071244 INIST
ET : Alpha-Synuclein Polymorphisms are Associated with Parkinson's Disease in a Saskatchewan Population
AU : RAJPUT (Alex); VILARINO-GÜELL (Carles); RAJPUT (Michele L.); ROSS (Owen A.); SOTO-ORTOLAZA (Alexandra I.); LINCOLN (Sarah J.); COBB (Stephanie A.); HECKMAN (Michael G.); FARRER (Matthew J.); RAJPUT (Ali)
AF : Division of Neurology, University of Saskatchewan and Saskatoon Health Region/Saskatoon, Saskatchewan/Canada (1 aut., 3 aut., 10 aut.); Department of Neuroscience, Mayo Clinic/Jacksonville, Florida/Etats-Unis (2 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut.)
DT : Publication en série; Courte communication, note brève; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 16; Pp. 2411-2414; Bibl. 18 ref.
LA : Anglais
EA : Alpha-synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early-onset disease in this population. The minor allele "G" at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression.
CC : 002B17; 002B17G
FD : Maladie de Parkinson; Pathologie du système nerveux; Polymorphisme
FG : Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED : Parkinson disease; Nervous system diseases; Polymorphism
EG : Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD : Parkinson enfermedad; Sistema nervioso patología; Polimorfismo
LO : INIST-20953.354000190005540160
ID : 10-0071244

Links to Exploration step

Pascal:10-0071244

Le document en format XML

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<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
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<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
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<s3>CC</s3>
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<s0>Alpha-synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early-onset disease in this population. The minor allele "G" at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression.</s0>
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<s0>002B17G</s0>
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<s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>01</s5>
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<fC03 i1="01" i2="X" l="ENG">
<s0>Parkinson disease</s0>
<s2>NM</s2>
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<s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>01</s5>
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<s5>09</s5>
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<s5>09</s5>
</fC03>
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<s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
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<s5>38</s5>
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<s5>39</s5>
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<s5>40</s5>
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<s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
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<s5>40</s5>
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<s1>046</s1>
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<fN44 i1="01">
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<ET>Alpha-Synuclein Polymorphisms are Associated with Parkinson's Disease in a Saskatchewan Population</ET>
<AU>RAJPUT (Alex); VILARINO-GÜELL (Carles); RAJPUT (Michele L.); ROSS (Owen A.); SOTO-ORTOLAZA (Alexandra I.); LINCOLN (Sarah J.); COBB (Stephanie A.); HECKMAN (Michael G.); FARRER (Matthew J.); RAJPUT (Ali)</AU>
<AF>Division of Neurology, University of Saskatchewan and Saskatoon Health Region/Saskatoon, Saskatchewan/Canada (1 aut., 3 aut., 10 aut.); Department of Neuroscience, Mayo Clinic/Jacksonville, Florida/Etats-Unis (2 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 16; Pp. 2411-2414; Bibl. 18 ref.</SO>
<LA>Anglais</LA>
<EA>Alpha-synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early-onset disease in this population. The minor allele "G" at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression.</EA>
<CC>002B17; 002B17G</CC>
<FD>Maladie de Parkinson; Pathologie du système nerveux; Polymorphisme</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central</FG>
<ED>Parkinson disease; Nervous system diseases; Polymorphism</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Polimorfismo</SD>
<LO>INIST-20953.354000190005540160</LO>
<ID>10-0071244</ID>
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