PINK1 Mutations in a Brazilian Cohort of Early-Onset Parkinson's Disease Patients

被引：7

作者：

Godeiro-Junior, Clecio ^{[1
,2
]}

de Carvalho-Aguiar, Patricia M. ^{[1
,2
]}

Felicio, Andre C. ^{[1
,2
]}

Barsottini, Orlando G. P. ^{[1
,2
]}

Silva, Sonia M. A. ^{[1
]}

Borges, Vanderci ^{[1
]}

Andrade, Luiz Augusto F. ^{[2
]}

Ballalai Ferraz, Henrique ^{[1
]}

机构：

[1] Univ Fed Sao Paulo, Dept Neurol & Neurosurg, Movement Disorders Unit, Sao Paulo, Brazil

[2] Hosp Israelita Albert Einstein, Inst Israelita Ensino & Pesquisa Albert Einstein, Sao Paulo, Brazil

来源：

MOVEMENT DISORDERS | 2009年 / 24卷 / 11期

基金：

巴西圣保罗研究基金会;

关键词：

Parkinson's disease; early-onset; PINK1; PARK6;

D O I：

10.1002/mds.22685

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2009 Movement Disorder Society

引用

页码：1693 / 1696

页数：4

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