MovDisordV3, PascalFrancis, Corpus, bibRecord, 000F92

Genotypic and Phenotypic Characteristics of Dutch Patients with Early Onset Parkinson's Disease

Identifieur interne : 000F92 ( PascalFrancis/Corpus ); précédent : 000F91; suivant : 000F93

Genotypic and Phenotypic Characteristics of Dutch Patients with Early Onset Parkinson's Disease

Auteurs : Maria G. Macedo ; Dagmar Verbaan ; YUE FANG ; Stephanie M. Van Rooden ; Martine Visser ; Burcu Anar ; Antonella Uras ; Justus L. Groen ; Patrizia Rizzu ; Jacobus J. Van Hilten ; Peter Heutink

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0104572

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Génotype, Néerlandais, Homme, Mutation, Phénotype.

English descriptors

KwdEn :
- Dutch, Genotype, Human, Mutation, Nervous system diseases, Parkinson disease, Phenotype.

Abstract

Early onset Parkinson's disease (EOPD) has been associated with mutations in the Parkin, DJ-1. PINK1. LRRK2, and SNCA genes. The aim of this study is to assess the contribution of these genes in a Dutch EOPD cohort and the phenotypic characteristics of the mutation carriers. A total of 187 unrelated Dutch EOPD patients (age at onset < 50 years) were phenotyped and screened for mutations in all exons of Parkin, DJ-1, and PINK1 by direct sequencing and gene dosage analysis. Additionally, analysis of the A30P mutation and exon dosage of SNCA and sequencing of exons 19,31,35,38,41, and 48 of LRRK2 was performed. Pathogenic variations could explain disease in 4% (7 of 187) of the patients including five patients carrying homozygous or compound heterozygous mutations in Parkin, one with a novel homozygous deletion in DJ-1 (P158Del) and one with a heterozygous mutation in LRRK2 (T2356I). We found seven novel mutations. The phenotypic characteristics of mutation carriers varied widely, comparable to the variability seen in sporadic EOPD. Parkin is the most frequently mutated gene in this EOPD cohort, followed by DJ-1, PINK1 and LRRK2. The low overall mutation frequency indicates that the extrapolation of mutation frequencies from other populations should be applied with caution.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A05				`@2 24`
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A08	`01`	`1`	`ENG`	`@1 Genotypic and Phenotypic Characteristics of Dutch Patients with Early Onset Parkinson's Disease`
A11	`01`	`1`		`@1 MACEDO (Maria G.)`
A11	`02`	`1`		`@1 VERBAAN (Dagmar)`
A11	`03`	`1`		`@1 YUE FANG`
A11	`04`	`1`		`@1 VAN ROODEN (Stephanie M.)`
A11	`05`	`1`		`@1 VISSER (Martine)`
A11	`06`	`1`		`@1 ANAR (Burcu)`
A11	`07`	`1`		`@1 URAS (Antonella)`
A11	`08`	`1`		`@1 GROEN (Justus L.)`
A11	`09`	`1`		`@1 RIZZU (Patrizia)`
A11	`10`	`1`		`@1 VAN HILTEN (Jacobus J.)`
A11	`11`	`1`		`@1 HEUTINK (Peter)`
A14	`01`			`@1 Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center @2 Amsterdam @3 NLD @Z 1 aut. @Z 3 aut. @Z 6 aut. @Z 7 aut. @Z 8 aut. @Z 9 aut. @Z 11 aut.`
A14	`02`			`@1 Department of Neurology, Leiden University Medical Center @2 Leiden @3 NLD @Z 2 aut. @Z 4 aut. @Z 5 aut. @Z 10 aut.`
A20				`@1 196-203`
A21				`@1 2009`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000184195990060`
A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
A45				`@0 32 ref.`
A47	`01`	`1`		`@0 09-0104572`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Early onset Parkinson's disease (EOPD) has been associated with mutations in the Parkin, DJ-1. PINK1. LRRK2, and SNCA genes. The aim of this study is to assess the contribution of these genes in a Dutch EOPD cohort and the phenotypic characteristics of the mutation carriers. A total of 187 unrelated Dutch EOPD patients (age at onset < 50 years) were phenotyped and screened for mutations in all exons of Parkin, DJ-1, and PINK1 by direct sequencing and gene dosage analysis. Additionally, analysis of the A30P mutation and exon dosage of SNCA and sequencing of exons 19,31,35,38,41, and 48 of LRRK2 was performed. Pathogenic variations could explain disease in 4% (7 of 187) of the patients including five patients carrying homozygous or compound heterozygous mutations in Parkin, one with a novel homozygous deletion in DJ-1 (P158Del) and one with a heterozygous mutation in LRRK2 (T2356I). We found seven novel mutations. The phenotypic characteristics of mutation carriers varied widely, comparable to the variability seen in sporadic EOPD. Parkin is the most frequently mutated gene in this EOPD cohort, followed by DJ-1, PINK1 and LRRK2. The low overall mutation frequency indicates that the extrapolation of mutation frequencies from other populations should be applied with caution.
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 Génotype @5 09`
C03	`03`	`X`	`ENG`	`@0 Genotype @5 09`
C03	`03`	`X`	`SPA`	`@0 Genotipo @5 09`
C03	`04`	`X`	`FRE`	`@0 Néerlandais @5 10`
C03	`04`	`X`	`ENG`	`@0 Dutch @5 10`
C03	`04`	`X`	`SPA`	`@0 Holandés @5 10`
C03	`05`	`X`	`FRE`	`@0 Homme @5 11`
C03	`05`	`X`	`ENG`	`@0 Human @5 11`
C03	`05`	`X`	`SPA`	`@0 Hombre @5 11`
C03	`06`	`X`	`FRE`	`@0 Mutation @5 12`
C03	`06`	`X`	`ENG`	`@0 Mutation @5 12`
C03	`06`	`X`	`SPA`	`@0 Mutación @5 12`
C03	`07`	`X`	`FRE`	`@0 Phénotype @5 13`
C03	`07`	`X`	`ENG`	`@0 Phenotype @5 13`
C03	`07`	`X`	`SPA`	`@0 Fenotipo @5 13`
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				`@1 075`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0104572 INIST
ET :	Genotypic and Phenotypic Characteristics of Dutch Patients with Early Onset Parkinson's Disease
AU :	MACEDO (Maria G.); VERBAAN (Dagmar); YUE FANG; VAN ROODEN (Stephanie M.); VISSER (Martine); ANAR (Burcu); URAS (Antonella); GROEN (Justus L.); RIZZU (Patrizia); VAN HILTEN (Jacobus J.); HEUTINK (Peter)
AF :	Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center/Amsterdam/Pays-Bas (1 aut., 3 aut., 6 aut., 7 aut., 8 aut., 9 aut., 11 aut.); Department of Neurology, Leiden University Medical Center/Leiden/Pays-Bas (2 aut., 4 aut., 5 aut., 10 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 2; Pp. 196-203; Bibl. 32 ref.
LA :	Anglais
EA :	Early onset Parkinson's disease (EOPD) has been associated with mutations in the Parkin, DJ-1. PINK1. LRRK2, and SNCA genes. The aim of this study is to assess the contribution of these genes in a Dutch EOPD cohort and the phenotypic characteristics of the mutation carriers. A total of 187 unrelated Dutch EOPD patients (age at onset < 50 years) were phenotyped and screened for mutations in all exons of Parkin, DJ-1, and PINK1 by direct sequencing and gene dosage analysis. Additionally, analysis of the A30P mutation and exon dosage of SNCA and sequencing of exons 19,31,35,38,41, and 48 of LRRK2 was performed. Pathogenic variations could explain disease in 4% (7 of 187) of the patients including five patients carrying homozygous or compound heterozygous mutations in Parkin, one with a novel homozygous deletion in DJ-1 (P158Del) and one with a heterozygous mutation in LRRK2 (T2356I). We found seven novel mutations. The phenotypic characteristics of mutation carriers varied widely, comparable to the variability seen in sporadic EOPD. Parkin is the most frequently mutated gene in this EOPD cohort, followed by DJ-1, PINK1 and LRRK2. The low overall mutation frequency indicates that the extrapolation of mutation frequencies from other populations should be applied with caution.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Pathologie du système nerveux; Génotype; Néerlandais; Homme; Mutation; Phénotype
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Nervous system diseases; Genotype; Dutch; Human; Mutation; Phenotype
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Genotipo; Holandés; Hombre; Mutación; Fenotipo
LO :	INIST-20953.354000184195990060
ID :	09-0104572

Links to Exploration step

Pascal:09-0104572

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Genotypic and Phenotypic Characteristics of Dutch Patients with Early Onset Parkinson's Disease</title>
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<author><name sortKey="Yue Fang" sort="Yue Fang" uniqKey="Yue Fang" last="Yue Fang">YUE FANG</name>
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<author><name sortKey="Van Rooden, Stephanie M" sort="Van Rooden, Stephanie M" uniqKey="Van Rooden S" first="Stephanie M." last="Van Rooden">Stephanie M. Van Rooden</name>
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<author><name sortKey="Visser, Martine" sort="Visser, Martine" uniqKey="Visser M" first="Martine" last="Visser">Martine Visser</name>
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<author><name sortKey="Anar, Burcu" sort="Anar, Burcu" uniqKey="Anar B" first="Burcu" last="Anar">Burcu Anar</name>
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<author><name sortKey="Uras, Antonella" sort="Uras, Antonella" uniqKey="Uras A" first="Antonella" last="Uras">Antonella Uras</name>
<affiliation><inist:fA14 i1="01"><s1>Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center</s1>
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<author><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</name>
<affiliation><inist:fA14 i1="01"><s1>Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center</s1>
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<author><name sortKey="Rizzu, Patrizia" sort="Rizzu, Patrizia" uniqKey="Rizzu P" first="Patrizia" last="Rizzu">Patrizia Rizzu</name>
<affiliation><inist:fA14 i1="01"><s1>Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center</s1>
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<author><name sortKey="Van Hilten, Jacobus J" sort="Van Hilten, Jacobus J" uniqKey="Van Hilten J" first="Jacobus J." last="Van Hilten">Jacobus J. Van Hilten</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Leiden University Medical Center</s1>
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<author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<affiliation><inist:fA14 i1="01"><s1>Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center</s1>
<s2>Amsterdam</s2>
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<sZ>6 aut.</sZ>
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<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
<imprint><date when="2009">2009</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
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<term>Genotype</term>
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<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Phenotype</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Génotype</term>
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<front><div type="abstract" xml:lang="en">Early onset Parkinson's disease (EOPD) has been associated with mutations in the Parkin, DJ-1. PINK1. LRRK2, and SNCA genes. The aim of this study is to assess the contribution of these genes in a Dutch EOPD cohort and the phenotypic characteristics of the mutation carriers. A total of 187 unrelated Dutch EOPD patients (age at onset < 50 years) were phenotyped and screened for mutations in all exons of Parkin, DJ-1, and PINK1 by direct sequencing and gene dosage analysis. Additionally, analysis of the A30P mutation and exon dosage of SNCA and sequencing of exons 19,31,35,38,41, and 48 of LRRK2 was performed. Pathogenic variations could explain disease in 4% (7 of 187) of the patients including five patients carrying homozygous or compound heterozygous mutations in Parkin, one with a novel homozygous deletion in DJ-1 (P158Del) and one with a heterozygous mutation in LRRK2 (T2356I). We found seven novel mutations. The phenotypic characteristics of mutation carriers varied widely, comparable to the variability seen in sporadic EOPD. Parkin is the most frequently mutated gene in this EOPD cohort, followed by DJ-1, PINK1 and LRRK2. The low overall mutation frequency indicates that the extrapolation of mutation frequencies from other populations should be applied with caution.</div>
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<fA11 i1="01" i2="1"><s1>MACEDO (Maria G.)</s1>
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<fA11 i1="10" i2="1"><s1>VAN HILTEN (Jacobus J.)</s1>
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<fA11 i1="11" i2="1"><s1>HEUTINK (Peter)</s1>
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<fA14 i1="01"><s1>Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center</s1>
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<fA14 i1="02"><s1>Department of Neurology, Leiden University Medical Center</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<fC01 i1="01" l="ENG"><s0>Early onset Parkinson's disease (EOPD) has been associated with mutations in the Parkin, DJ-1. PINK1. LRRK2, and SNCA genes. The aim of this study is to assess the contribution of these genes in a Dutch EOPD cohort and the phenotypic characteristics of the mutation carriers. A total of 187 unrelated Dutch EOPD patients (age at onset < 50 years) were phenotyped and screened for mutations in all exons of Parkin, DJ-1, and PINK1 by direct sequencing and gene dosage analysis. Additionally, analysis of the A30P mutation and exon dosage of SNCA and sequencing of exons 19,31,35,38,41, and 48 of LRRK2 was performed. Pathogenic variations could explain disease in 4% (7 of 187) of the patients including five patients carrying homozygous or compound heterozygous mutations in Parkin, one with a novel homozygous deletion in DJ-1 (P158Del) and one with a heterozygous mutation in LRRK2 (T2356I). We found seven novel mutations. The phenotypic characteristics of mutation carriers varied widely, comparable to the variability seen in sporadic EOPD. Parkin is the most frequently mutated gene in this EOPD cohort, followed by DJ-1, PINK1 and LRRK2. The low overall mutation frequency indicates that the extrapolation of mutation frequencies from other populations should be applied with caution.</s0>
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<server><NO>PASCAL 09-0104572 INIST</NO>
<ET>Genotypic and Phenotypic Characteristics of Dutch Patients with Early Onset Parkinson's Disease</ET>
<AU>MACEDO (Maria G.); VERBAAN (Dagmar); YUE FANG; VAN ROODEN (Stephanie M.); VISSER (Martine); ANAR (Burcu); URAS (Antonella); GROEN (Justus L.); RIZZU (Patrizia); VAN HILTEN (Jacobus J.); HEUTINK (Peter)</AU>
<AF>Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center/Amsterdam/Pays-Bas (1 aut., 3 aut., 6 aut., 7 aut., 8 aut., 9 aut., 11 aut.); Department of Neurology, Leiden University Medical Center/Leiden/Pays-Bas (2 aut., 4 aut., 5 aut., 10 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
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<LA>Anglais</LA>
<EA>Early onset Parkinson's disease (EOPD) has been associated with mutations in the Parkin, DJ-1. PINK1. LRRK2, and SNCA genes. The aim of this study is to assess the contribution of these genes in a Dutch EOPD cohort and the phenotypic characteristics of the mutation carriers. A total of 187 unrelated Dutch EOPD patients (age at onset < 50 years) were phenotyped and screened for mutations in all exons of Parkin, DJ-1, and PINK1 by direct sequencing and gene dosage analysis. Additionally, analysis of the A30P mutation and exon dosage of SNCA and sequencing of exons 19,31,35,38,41, and 48 of LRRK2 was performed. Pathogenic variations could explain disease in 4% (7 of 187) of the patients including five patients carrying homozygous or compound heterozygous mutations in Parkin, one with a novel homozygous deletion in DJ-1 (P158Del) and one with a heterozygous mutation in LRRK2 (T2356I). We found seven novel mutations. The phenotypic characteristics of mutation carriers varied widely, comparable to the variability seen in sporadic EOPD. Parkin is the most frequently mutated gene in this EOPD cohort, followed by DJ-1, PINK1 and LRRK2. The low overall mutation frequency indicates that the extrapolation of mutation frequencies from other populations should be applied with caution.</EA>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Genotypic and Phenotypic Characteristics of Dutch Patients with Early Onset Parkinson's Disease

Genotypic and Phenotypic Characteristics of Dutch Patients with Early Onset Parkinson's Disease

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