DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients

被引：10

作者：

Sironi, Francesca ^{[1
]}

Primignani, Paola ^{[1
]}

Ricca, Sara ^{[1
]}

Tunesi, Sara ^{[2
]}

Zini, Michela ^{[3
]}

Tesei, Silvana ^{[3
]}

Cilia, Roberto ^{[3
]}

Pezzoli, Gianni ^{[3
]}

Seia, Manuela ^{[1
]}

Goldwurm, Stefano ^{[3
]}

机构：

[1] Fdn IRCCS Osped Maggiore Policlin Mangiagalli & R, Med Genet Lab, Milan, Italy

[2] Univ Milan, Inst Med Stat & Biometry GA Maccaro, Milan, Italy

[3] Ist Clin Perfezionamento, Parkinson Inst, I-20126 Milan, Italy

来源：

NEUROSCIENCE LETTERS | 2013年 / 557卷

关键词：

DJ1; Early Onset Parkinson Disease; Mutation analysis; MUTATION ANALYSIS; DJ-1; MUTATIONS; PINK1; GENES; PARK7; RARE;

D O I：

10.1016/j.neulet.2013.10.048

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

We analyzed the DJ1 gene in a large consecutive series (N= 163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset <= 40 years of age) patients and 100 healthy controls (mean age 64 +/- 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found. Several variants were identified, some of which were novels. All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified. (C) 2013 The Authors. Published by Elsevier Ireland Ltd. Open access underCC BY-NC-SA license

引用

页码：165 / 170

页数：6

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