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01-07-2010 | Original Communication

Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism

Authors: Ji-feng Guo, Xue-wei Zhang, Li-luo Nie, Hai-nan Zhang, Bin Liao, Jing Li, Lei Wang, Xin-xiang Yan, Bei-sha Tang

Published in: Journal of Neurology | Issue 7/2010

Abstract

Early onset parkinsonism (EOP) has been associated with mutations in the Parkin, PINK1, and DJ-1 genes. We studied the prevalence of mutations in all three genes in 127 unrelated Chinese patients with apparently sporadic EOP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 16 patients (12.6%) with mutations of Parkin gene, four patients (3.1%) with mutations of PINK1 gene, and three patients (2.4%) with mutation of DJ-1 gene. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with sporadic EOP. Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP.

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Title: Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism
Authors: Ji-feng Guo
Xue-wei Zhang
Li-luo Nie
Hai-nan Zhang
Bin Liao
Jing Li
Lei Wang
Xin-xiang Yan
Bei-sha Tang
Publication date: 01-07-2010
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 7/2010
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-010-5485-8

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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