MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 000E61

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

Identifieur interne : 000E61 ( PascalFrancis/Checkpoint ); précédent : 000E60; suivant : 000E62

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

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

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.
Wicri :
- topic : Homme.

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.

Affiliations:

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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="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
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<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="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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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dutch</term>
<term>Genotype</term>
<term>Human</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Génotype</term>
<term>Néerlandais</term>
<term>Homme</term>
<term>Mutation</term>
<term>Phénotype</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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>
</front>
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<fA11 i1="01" i2="1"><s1>MACEDO (Maria G.)</s1>
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<fA11 i1="05" i2="1"><s1>VISSER (Martine)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>ANAR (Burcu)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>URAS (Antonella)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>GROEN (Justus L.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>RIZZU (Patrizia)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>VAN HILTEN (Jacobus J.)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>HEUTINK (Peter)</s1>
</fA11>
<fA14 i1="01"><s1>Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center</s1>
<s2>Amsterdam</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<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>
<sZ>10 aut.</sZ>
</fA14>
<fA20><s1>196-203</s1>
</fA20>
<fA21><s1>2009</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000184195990060</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2009 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>32 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>09-0104572</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<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>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Génotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Genotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Genotipo</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Néerlandais</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Dutch</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Holandés</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Homme</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Human</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Hombre</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Mutation</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Mutation</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Mutación</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>13</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><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"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>075</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations><list><country><li>Pays-Bas</li>
</country>
<region><li>Hollande-Méridionale</li>
<li>Hollande-Septentrionale</li>
</region>
<settlement><li>Amsterdam</li>
<li>Leyde</li>
</settlement>
</list>
<tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Macedo, Maria G" sort="Macedo, Maria G" uniqKey="Macedo M" first="Maria G." last="Macedo">Maria G. Macedo</name>
</region>
<name sortKey="Anar, Burcu" sort="Anar, Burcu" uniqKey="Anar B" first="Burcu" last="Anar">Burcu Anar</name>
<name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</name>
<name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<name sortKey="Rizzu, Patrizia" sort="Rizzu, Patrizia" uniqKey="Rizzu P" first="Patrizia" last="Rizzu">Patrizia Rizzu</name>
<name sortKey="Uras, Antonella" sort="Uras, Antonella" uniqKey="Uras A" first="Antonella" last="Uras">Antonella Uras</name>
<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>
<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>
<name sortKey="Verbaan, Dagmar" sort="Verbaan, Dagmar" uniqKey="Verbaan D" first="Dagmar" last="Verbaan">Dagmar Verbaan</name>
<name sortKey="Visser, Martine" sort="Visser, Martine" uniqKey="Visser M" first="Martine" last="Visser">Martine Visser</name>
<name sortKey="Yue Fang" sort="Yue Fang" uniqKey="Yue Fang" last="Yue Fang">YUE FANG</name>
</country>
</tree>
</affiliations>
</record>

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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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