PINK1 Mutations in a Brazilian Cohort of Early-Onset Parkinson's Disease Patients
Identifieur interne : 002503 ( Main/Exploration ); précédent : 002502; suivant : 002504PINK1 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. Felicio [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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
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.
Affiliations:
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Le document en format XML
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du système nerveux</term>
<term>Mutation</term>
<term>Homme</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.</div>
</front>
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<affiliations><list><country><li>Brésil</li>
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<name sortKey="Borges, Vanderci" sort="Borges, Vanderci" uniqKey="Borges V" first="Vanderci" last="Borges">Vanderci Borges</name>
<name sortKey="De Carvalho Aguiar, Patricia M" sort="De Carvalho Aguiar, Patricia M" uniqKey="De Carvalho Aguiar P" first="Patricia M." last="De Carvalho-Aguiar">Patricia M. De Carvalho-Aguiar</name>
<name sortKey="De Carvalho Aguiar, Patricia M" sort="De Carvalho Aguiar, Patricia M" uniqKey="De Carvalho Aguiar 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="Felicio">Andre C. Felicio</name>
<name sortKey="Felicio, Andre C" sort="Felicio, Andre C" uniqKey="Felicio A" first="Andre C." last="Felicio">Andre C. Felicio</name>
<name sortKey="Godeiro Junior, Clecio" sort="Godeiro Junior, Clecio" uniqKey="Godeiro Junior 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>
</tree>
</affiliations>
</record>
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