MovDisordV3, Main, Exploration, bibRecord, 002161

PINK1 mutations in a Brazilian cohort of early‐onset Parkinson's disease patients

Identifieur interne : 002161 ( Main/Exploration ); précédent : 002160; suivant : 002162

PINK1 mutations in a Brazilian cohort of early‐onset Parkinson's disease patients

Auteurs : Clecio Godeiro-Junior [Brésil] ; Patricia M. De Carvalho-Aguiar [Brésil] ; Andre C. Felício [Brésil] ; Orlando G. P. Barsottini [Brésil] ; Sonia M. A. Silva [Brésil] ; Vanderci Borges [Brésil] ; Luiz Augusto F. Andrade [Brésil] ; Henrique Ballalai Ferraz [Brésil]

Source :

Movement Disorders [ 0885-3185 ] ; 2009-08-15.

RBID : ISTEX:026B0CAE2BEC027B9F355FF611F68407C3928321

Descripteurs français

Wicri :
- geographic : Brésil.

English descriptors

KwdEn :
- Adult, Age of Onset, Aged, Brazil (epidemiology), Cohort Studies, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, PINK1, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson's disease, Polymorphism, Single Nucleotide, Prospective Studies, Protein Kinases (genetics), Protein Kinases (physiology), Protein-Serine-Threonine Kinases (genetics), Protein-Serine-Threonine Kinases (physiology), Risk Factors, Ubiquitin-Protein Ligases (genetics), Ubiquitin-Protein Ligases (physiology), early‐onset.
MESH :
- chemical , genetics : Protein Kinases, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases.
- geographic , epidemiology : Brazil.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease.
- chemical , physiology : Protein Kinases, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases.
- Adult, Age of Onset, Aged, Cohort Studies, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Prospective Studies, Risk Factors.

Abstract

Data on the frequency of PINK1 mutations in Brazilian patients with early‐onset Parkinson's disease (EOPD) are lacking. The aim of this report was to investigate mutations of the PINK1 gene in a cohort of Brazilian patients with EOPD. Sixty consecutive familial or sporadic EOPD patients were included. All eight PINK1 exons and exon‐intron boundaries were analyzed. We did not find any pathogenic mutation of PINK1 in our cohort. Single Nucleotide Polymorphisms (SNP) were identified in 46.7% of the patients and in 45.9% of controls (P = 0.9). The SNPs identified in our patients had already been described in previous reports. The results of our study support the hypothesis that mutations in PINK1 may not be a relevant cause of EOPD. In Brazil, if we consider only EOPD patients, it seems that parkin and LRRK2 mutations are more common. © 2009 Movement Disorder Society

Url:

https://api.istex.fr/document/026B0CAE2BEC027B9F355FF611F68407C3928321/fulltext/pdf

DOI: 10.1002/mds.22685

Affiliations:

Le document en format XML

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<author><name sortKey="Godeiro Unior, Clecio" sort="Godeiro Unior, Clecio" uniqKey="Godeiro Unior C" first="Clecio" last="Godeiro-Junior">Clecio Godeiro-Junior</name>
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<author><name sortKey="De Carvalho Guiar, Patricia M" sort="De Carvalho Guiar, Patricia M" uniqKey="De Carvalho Guiar P" first="Patricia M." last="De Carvalho-Aguiar">Patricia M. De Carvalho-Aguiar</name>
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<author><name sortKey="Felicio, Andre C" sort="Felicio, Andre C" uniqKey="Felicio A" first="Andre C." last="Felício">Andre C. Felício</name>
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<author><name sortKey="Barsottini, Orlando G P" sort="Barsottini, Orlando G P" uniqKey="Barsottini O" first="Orlando G. P." last="Barsottini">Orlando G. P. Barsottini</name>
</author>
<author><name sortKey="Silva, Sonia M A" sort="Silva, Sonia M A" uniqKey="Silva S" first="Sonia M. A." last="Silva">Sonia M. A. Silva</name>
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<author><name sortKey="Borges, Vanderci" sort="Borges, Vanderci" uniqKey="Borges V" first="Vanderci" last="Borges">Vanderci Borges</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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<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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<author><name sortKey="De Carvalho Guiar, Patricia M" sort="De Carvalho Guiar, Patricia M" uniqKey="De Carvalho Guiar P" first="Patricia M." last="De Carvalho-Aguiar">Patricia M. De Carvalho-Aguiar</name>
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<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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<term>Age of Onset</term>
<term>Aged</term>
<term>Brazil (epidemiology)</term>
<term>Cohort Studies</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>PINK1</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson's disease</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Prospective Studies</term>
<term>Protein Kinases (genetics)</term>
<term>Protein Kinases (physiology)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Protein-Serine-Threonine Kinases (physiology)</term>
<term>Risk Factors</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>Ubiquitin-Protein Ligases (physiology)</term>
<term>early‐onset</term>
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<term>Protein-Serine-Threonine Kinases</term>
<term>Ubiquitin-Protein Ligases</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
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<term>Protein-Serine-Threonine Kinases</term>
<term>Ubiquitin-Protein Ligases</term>
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<term>Age of Onset</term>
<term>Aged</term>
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<term>Humans</term>
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<front><div type="abstract" xml:lang="en">Data on the frequency of PINK1 mutations in Brazilian patients with early‐onset Parkinson's disease (EOPD) are lacking. The aim of this report was to investigate mutations of the PINK1 gene in a cohort of Brazilian patients with EOPD. Sixty consecutive familial or sporadic EOPD patients were included. All eight PINK1 exons and exon‐intron boundaries were analyzed. We did not find any pathogenic mutation of PINK1 in our cohort. Single Nucleotide Polymorphisms (SNP) were identified in 46.7% of the patients and in 45.9% of controls (P = 0.9). The SNPs identified in our patients had already been described in previous reports. The results of our study support the hypothesis that mutations in PINK1 may not be a relevant cause of EOPD. In Brazil, if we consider only EOPD patients, it seems that parkin and LRRK2 mutations are more common. © 2009 Movement Disorder Society</div>
</front>
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<tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="Godeiro Unior, Clecio" sort="Godeiro Unior, Clecio" uniqKey="Godeiro Unior C" first="Clecio" last="Godeiro-Junior">Clecio Godeiro-Junior</name>
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<name sortKey="Barsottini, Orlando G P" sort="Barsottini, Orlando G P" uniqKey="Barsottini O" first="Orlando G. P." last="Barsottini">Orlando G. P. Barsottini</name>
<name sortKey="Barsottini, Orlando G P" sort="Barsottini, Orlando G P" uniqKey="Barsottini O" first="Orlando G. P." last="Barsottini">Orlando G. P. Barsottini</name>
<name sortKey="Borges, Vanderci" sort="Borges, Vanderci" uniqKey="Borges V" first="Vanderci" last="Borges">Vanderci Borges</name>
<name sortKey="De Carvalho Guiar, Patricia M" sort="De Carvalho Guiar, Patricia M" uniqKey="De Carvalho Guiar P" first="Patricia M." last="De Carvalho-Aguiar">Patricia M. De Carvalho-Aguiar</name>
<name sortKey="De Carvalho Guiar, Patricia M" sort="De Carvalho Guiar, Patricia M" uniqKey="De Carvalho Guiar P" first="Patricia M." last="De Carvalho-Aguiar">Patricia M. De Carvalho-Aguiar</name>
<name sortKey="Felicio, Andre C" sort="Felicio, Andre C" uniqKey="Felicio A" first="Andre C." last="Felício">Andre C. Felício</name>
<name sortKey="Felicio, Andre C" sort="Felicio, Andre C" uniqKey="Felicio A" first="Andre C." last="Felício">Andre C. 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="Godeiro Unior, Clecio" sort="Godeiro Unior, Clecio" uniqKey="Godeiro Unior C" first="Clecio" last="Godeiro-Junior">Clecio Godeiro-Junior</name>
<name sortKey="Silva, Sonia M A" sort="Silva, Sonia M A" uniqKey="Silva S" first="Sonia M. A." last="Silva">Sonia M. A. Silva</name>
</country>
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Movement Disorders (revue)

PINK1 mutations in a Brazilian cohort of early‐onset Parkinson's disease patients

PINK1 mutations in a Brazilian cohort of early‐onset Parkinson's disease 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)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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