期刊
NEUROSCIENCE LETTERS
卷 557, 期 -, 页码 165-170出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2013.10.048
关键词
DJ1; Early Onset Parkinson Disease; Mutation analysis
资金
- Italian Telethon Foundation [GGP11164, GTB12001]
- Fondazione Grigioni per il Morbo di Parkinson
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
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