Movement Disorders (revue)

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

Identifieur interne : 000F65 ( Istex/Corpus ); précédent : 000F64; suivant : 000F66

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

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

Source :

RBID : ISTEX:026B0CAE2BEC027B9F355FF611F68407C3928321

English descriptors

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:
DOI: 10.1002/mds.22685

Links to Exploration step

ISTEX:026B0CAE2BEC027B9F355FF611F68407C3928321

Le document en format XML

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<abstract 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</abstract>
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