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G2019S型LRRK2基因突变在希腊散发性帕金森病患者中并不常见。

The G2019S LRRK2 mutation is uncommon amongst Greek patients with sporadic Parkinson's disease.

作者信息

Kalinderi K, Fidani L, Bostantjopoulou S, Katsarou Z, Kotsis A

机构信息

Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.

出版信息

Eur J Neurol. 2007 Oct;14(10):1088-90. doi: 10.1111/j.1468-1331.2007.01867.x.

DOI:10.1111/j.1468-1331.2007.01867.x
PMID:17880562
Abstract

Parkinson's disease (PD) is the second most common neurodegenerative disorder affecting approximately 2% of the population >60 years of age. Although, the etiology of PD is still unknown, the genetic background of the disease has been documented. Recently, a mutation in the LRRK2 gene, G2019S, was associated with 3-41% and 1-2% of familial and sporadic PD, respectively suggesting a pivotal role of LRRK2 in PD. In this report, we examine the association of the G2019S mutation with sporadic late-onset PD, in an independent cohort of Greek patients and controls.

摘要

帕金森病(PD)是第二常见的神经退行性疾病,影响约2%的60岁以上人群。尽管PD的病因仍不清楚,但该疾病的遗传背景已有记载。最近,LRRK2基因中的G2019S突变分别与3%-41%的家族性PD和1%-2%的散发性PD相关,这表明LRRK2在PD中起关键作用。在本报告中,我们在一组独立的希腊患者和对照人群中,研究了G2019S突变与散发性晚发型PD的相关性。

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