Analysis of LRRK2 G2019S and I2020T mutations in Parkinson's disease

被引:34
作者
Bialecka, M
Hui, S
Klodowska-Duda, G
Opala, G
Tan, EK
Drozdzik, M
机构
[1] Pomeranian Med Univ, Dept Pharmacol, PL-70111 Szczecin, Poland
[2] Natl Inst Neurosci, Singapore, Singapore
[3] Sing Hlth Res, Singapore, Singapore
[4] Med Univ Silesia, Dept Neurol Ageing Degenerat & Cerebrovasc Dis, Katowice, Poland
关键词
LRRK2; gene; Parkinson disease;
D O I
10.1016/j.neulet.2005.07.045
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Mutations in the leucine-rich repeat kinase 2 (LRRK2), encoding dardarin protein, have been demonstrated to be linked to autosomal dominant Parkinson's disease (PD). In the present study the entire exon 41 of LRRK2 gene was evaluated in a series of 174 PD patients recruited from Polish population, aged at the time of diagnosis 54.0 +/- 39.1 years, 21 of them had positive family history of PD with mean onset of the disease of 51.9 +/- 11.7 years as well as in 190 healthy controls aged 73.7 +/- 6.0 years. The mutations were evaluated by direct sequencing for mutations in exon 41 of LRRK2 gene. In the studied patients no known mutations in exon 41 of LRRK2 gene, including G2019S and I2020T were found, both in PD patients as well as in the controls. It can be concluded that the G2019S and I2020T mutations in exon 41 of LRRK2 gene are rare causes of Parkinson disease in a Polish population. (C) 2005 Elsevier Ireland Ltd. All rights reserved.
引用
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页码:1 / 3
页数:3
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