MovDisordV3, Main, Exploration, bibRecord, 002824

Genetic and environmental findings in early‐onset Parkinson's disease Brazilian patients

Identifieur interne : 002824 ( Main/Exploration ); précédent : 002823; suivant : 002825

Genetic and environmental findings in early‐onset Parkinson's disease Brazilian patients

Auteurs : Patricia De Carvalho Aguiar [Brésil] ; Patricia Silva Lessa [Brésil] ; Clecio Godeiro Junior [Brésil] ; Orlando Barsottini [Brésil] ; Andre Carvalho Felício [Brésil] ; Vanderci Borges [Brésil] ; Sonia Maria De Azevedo Silva [Brésil] ; Roberta Arb Saba [Brésil] ; Henrique Ballalai Ferraz [Brésil] ; Carlos A. Moreira-Filho [Brésil] ; Luiz Augusto F. Andrade [Brésil]

Source :

Movement Disorders [ 0885-3185 ] ; 2008-07-15.

RBID : ISTEX:B0A66A5E70A820B356BA1656A924775C26C13BF5

Descripteurs français

Pascal (Inist)
- Environnement, Homme, Maladie de Parkinson, Pathologie du système nerveux, Polymorphisme.
Wicri :
- geographic : Brésil.
- topic : Homme.

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Brazil (epidemiology), Chi-Square Distribution, Child, DNA Mutational Analysis, Environment, Female, Gene Frequency, Genotype, Human, Humans, Male, Middle Aged, Nervous system diseases, PARK2, PARK8, Parkinson Disease (epidemiology), Parkinson Disease (etiology), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Polymorphism, Polymorphism, Genetic (genetics), Protein-Serine-Threonine Kinases (genetics), Ubiquitin-Protein Ligases (genetics), Young Adult, environment, genetics, polymorphism.
MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases.
- geographic , epidemiology : Brazil.
- epidemiology : Parkinson Disease.
- etiology : Parkinson Disease.
- genetics : Parkinson Disease, Polymorphism, Genetic.
- Adolescent, Adult, Aged, Chi-Square Distribution, Child, DNA Mutational Analysis, Environment, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Young Adult.

Abstract

Parkinson's disease (PD) etiology has been attributed both to genetic and environmental factors. In this study, we investigated Brazilian early‐onset PD (EOPD) patients for mutations in PARK2 and PARK8, exposure to environmental factors and possible correlations between PARK2 polymorphisms, environmental exposure, and disease age of onset. We enrolled 72 EOPD index patients and 81 healthy volunteers. Both groups were investigated for environmental exposure. EOPD patients were screened for PARK2 and PARK8 mutations. PARK2 coding polymorphisms Ser167Asn and Val380Leu were investigated in both groups. Mutations were present in 18% of the patients and in 32% of those with a positive family history. PARK2 mutations represented 12.5% and PARK8 mutations accounted for 5.5% of the mutations. A novel PARK2 mutation (D53X) was identified in 2 patients. A positive correlation was found between EOPD and well water drinking. In patients exposed to well water, a later age of onset was observed for those who carried at least one PARK2 380Leu allele. PARK2 mutations have an important role in EOPD Brazilian patients and PARK8 might be the second most important disease causing gene in this group. Well water drinking exposure represents a risk factor for EOPD and the PARK2 coding polymorphism Val380Leu might be interacting with environmental factors acting as a disease modifier. © 2008 Movement Disorder Society

Url:

https://api.istex.fr/document/B0A66A5E70A820B356BA1656A924775C26C13BF5/fulltext/pdf

DOI: 10.1002/mds.22032

Affiliations:

Le document en format XML

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<author><name sortKey="Lessa, Patricia Silva" sort="Lessa, Patricia Silva" uniqKey="Lessa P" first="Patricia Silva" last="Lessa">Patricia Silva Lessa</name>
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<author><name sortKey="Barsottini, Orlando" sort="Barsottini, Orlando" uniqKey="Barsottini O" first="Orlando" last="Barsottini">Orlando Barsottini</name>
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<author><name sortKey="Andrade, Luiz Augusto F" sort="Andrade, Luiz Augusto F" uniqKey="Andrade L" first="Luiz Augusto F." last="Andrade">Luiz Augusto F. Andrade</name>
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<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
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<placeName><region type="state">État de São Paulo</region>
</placeName>
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<author><name sortKey="Lessa, Patricia Silva" sort="Lessa, Patricia Silva" uniqKey="Lessa P" first="Patricia Silva" last="Lessa">Patricia Silva Lessa</name>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Barsottini, Orlando" sort="Barsottini, Orlando" uniqKey="Barsottini O" first="Orlando" last="Barsottini">Orlando Barsottini</name>
<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
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<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
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<placeName><region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Felicio, Andre Carvalho" sort="Felicio, Andre Carvalho" uniqKey="Felicio A" first="Andre Carvalho" last="Felício">Andre Carvalho Felício</name>
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<placeName><region type="state">État de São Paulo</region>
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</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
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</author>
<author><name sortKey="Borges, Vanderci" sort="Borges, Vanderci" uniqKey="Borges V" first="Vanderci" last="Borges">Vanderci Borges</name>
<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Department of Neurology and Neurosurgery‐Universidade Federal de São Paulo, São Paulo‐SP</wicri:regionArea>
<placeName><region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="De Azevedo Silva, Sonia Maria" sort="De Azevedo Silva, Sonia Maria" uniqKey="De Azevedo Silva S" first="Sonia Maria" last="De Azevedo Silva">Sonia Maria De Azevedo Silva</name>
<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Department of Neurology and Neurosurgery‐Universidade Federal de São Paulo, São Paulo‐SP</wicri:regionArea>
<placeName><region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Saba, Roberta Arb" sort="Saba, Roberta Arb" uniqKey="Saba R" first="Roberta Arb" last="Saba">Roberta Arb Saba</name>
<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Department of Neurology and Neurosurgery‐Universidade Federal de São Paulo, São Paulo‐SP</wicri:regionArea>
<placeName><region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ferraz, Henrique Ballalai" sort="Ferraz, Henrique Ballalai" uniqKey="Ferraz H" first="Henrique Ballalai" last="Ferraz">Henrique Ballalai Ferraz</name>
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<wicri:regionArea>Department of Neurology and Neurosurgery‐Universidade Federal de São Paulo, São Paulo‐SP</wicri:regionArea>
<placeName><region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moreira Ilho, Carlos A" sort="Moreira Ilho, Carlos A" uniqKey="Moreira Ilho C" first="Carlos A." last="Moreira-Filho">Carlos A. Moreira-Filho</name>
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<placeName><region type="state">État de São Paulo</region>
</placeName>
</affiliation>
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<wicri:regionArea>Department of Immunology‐ICB‐Universidade de São Paulo, São Paulo‐SP</wicri:regionArea>
<placeName><region type="state">État de São Paulo</region>
<settlement type="city">São Paulo</settlement>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
<author><name sortKey="Andrade, Luiz Augusto F" sort="Andrade, Luiz Augusto F" uniqKey="Andrade L" first="Luiz Augusto F." last="Andrade">Luiz Augusto F. Andrade</name>
<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
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<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Brazil (epidemiology)</term>
<term>Chi-Square Distribution</term>
<term>Child</term>
<term>DNA Mutational Analysis</term>
<term>Environment</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
<term>Human</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Nervous system diseases</term>
<term>PARK2</term>
<term>PARK8</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (etiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Polymorphism</term>
<term>Polymorphism, Genetic (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>Young Adult</term>
<term>environment</term>
<term>genetics</term>
<term>polymorphism</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Brazil</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
<term>Polymorphism, Genetic</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Chi-Square Distribution</term>
<term>Child</term>
<term>DNA Mutational Analysis</term>
<term>Environment</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Environnement</term>
<term>Homme</term>
<term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Polymorphisme</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
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<front><div type="abstract" xml:lang="en">Parkinson's disease (PD) etiology has been attributed both to genetic and environmental factors. In this study, we investigated Brazilian early‐onset PD (EOPD) patients for mutations in PARK2 and PARK8, exposure to environmental factors and possible correlations between PARK2 polymorphisms, environmental exposure, and disease age of onset. We enrolled 72 EOPD index patients and 81 healthy volunteers. Both groups were investigated for environmental exposure. EOPD patients were screened for PARK2 and PARK8 mutations. PARK2 coding polymorphisms Ser167Asn and Val380Leu were investigated in both groups. Mutations were present in 18% of the patients and in 32% of those with a positive family history. PARK2 mutations represented 12.5% and PARK8 mutations accounted for 5.5% of the mutations. A novel PARK2 mutation (D53X) was identified in 2 patients. A positive correlation was found between EOPD and well water drinking. In patients exposed to well water, a later age of onset was observed for those who carried at least one PARK2 380Leu allele. PARK2 mutations have an important role in EOPD Brazilian patients and PARK8 might be the second most important disease causing gene in this group. Well water drinking exposure represents a risk factor for EOPD and the PARK2 coding polymorphism Val380Leu might be interacting with environmental factors acting as a disease modifier. © 2008 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Brésil</li>
</country>
<region><li>État de São Paulo</li>
</region>
<settlement><li>São Paulo</li>
</settlement>
<orgName><li>Université de São Paulo</li>
</orgName>
</list>
<tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patricia" last="De Carvalho Aguiar">Patricia De Carvalho Aguiar</name>
</region>
<name sortKey="Andrade, Luiz Augusto F" sort="Andrade, Luiz Augusto F" uniqKey="Andrade L" first="Luiz Augusto F." last="Andrade">Luiz Augusto F. Andrade</name>
<name sortKey="Barsottini, Orlando" sort="Barsottini, Orlando" uniqKey="Barsottini O" first="Orlando" last="Barsottini">Orlando Barsottini</name>
<name sortKey="Barsottini, Orlando" sort="Barsottini, Orlando" uniqKey="Barsottini O" first="Orlando" last="Barsottini">Orlando Barsottini</name>
<name sortKey="Borges, Vanderci" sort="Borges, Vanderci" uniqKey="Borges V" first="Vanderci" last="Borges">Vanderci Borges</name>
<name sortKey="De Azevedo Silva, Sonia Maria" sort="De Azevedo Silva, Sonia Maria" uniqKey="De Azevedo Silva S" first="Sonia Maria" last="De Azevedo Silva">Sonia Maria De Azevedo Silva</name>
<name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patricia" last="De Carvalho Aguiar">Patricia De Carvalho Aguiar</name>
<name sortKey="Felicio, Andre Carvalho" sort="Felicio, Andre Carvalho" uniqKey="Felicio A" first="Andre Carvalho" last="Felício">Andre Carvalho Felício</name>
<name sortKey="Felicio, Andre Carvalho" sort="Felicio, Andre Carvalho" uniqKey="Felicio A" first="Andre Carvalho" last="Felício">Andre Carvalho Felício</name>
<name sortKey="Ferraz, Henrique Ballalai" sort="Ferraz, Henrique Ballalai" uniqKey="Ferraz H" first="Henrique Ballalai" last="Ferraz">Henrique Ballalai Ferraz</name>
<name sortKey="Junior, Clecio Godeiro" sort="Junior, Clecio Godeiro" uniqKey="Junior C" first="Clecio Godeiro" last="Junior">Clecio Godeiro Junior</name>
<name sortKey="Junior, Clecio Godeiro" sort="Junior, Clecio Godeiro" uniqKey="Junior C" first="Clecio Godeiro" last="Junior">Clecio Godeiro Junior</name>
<name sortKey="Lessa, Patricia Silva" sort="Lessa, Patricia Silva" uniqKey="Lessa P" first="Patricia Silva" last="Lessa">Patricia Silva Lessa</name>
<name sortKey="Lessa, Patricia Silva" sort="Lessa, Patricia Silva" uniqKey="Lessa P" first="Patricia Silva" last="Lessa">Patricia Silva Lessa</name>
<name sortKey="Moreira Ilho, Carlos A" sort="Moreira Ilho, Carlos A" uniqKey="Moreira Ilho C" first="Carlos A." last="Moreira-Filho">Carlos A. Moreira-Filho</name>
<name sortKey="Moreira Ilho, Carlos A" sort="Moreira Ilho, Carlos A" uniqKey="Moreira Ilho C" first="Carlos A." last="Moreira-Filho">Carlos A. Moreira-Filho</name>
<name sortKey="Saba, Roberta Arb" sort="Saba, Roberta Arb" uniqKey="Saba R" first="Roberta Arb" last="Saba">Roberta Arb Saba</name>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

Genetic and environmental findings in early‐onset Parkinson's disease Brazilian patients

Genetic and environmental findings in early‐onset Parkinson's disease Brazilian patients

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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	Movement Disorders (revue)
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