Deng Hao, Le WeiDong, Davidson Anthony L, Xie WenJie, Jankovic Joseph
Department of Neurology, Baylor College of Medicine, 6550 Fannin, Suite 1801, Houston, TX 77030, USA.
Neurosci Lett. 2006 Oct 23;407(2):97-100. doi: 10.1016/j.neulet.2006.08.012. Epub 2006 Aug 30.
Several mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of Parkinson's disease (PD). G2019S, located at a kinase (MAPKKK) domain, is the most common mutation in the LRRK2 gene in PD, Two adjacent mutations (I2012T and I2020T) were mapped to the same domain suggesting shared pathogenic mechanism of these mutations. Since phenotypes of PD overlap with essential tremor (ET), we investigated LRRK2 G2019S, I2012T, and I2020T mutations in a cohort of 272 patients with ET. No mutations were found in our ET cohort and, therefore, we conclude that LRKK2 I2012T, G2019S and I2020T variants are rare causes of Caucasian ET.
在帕金森病（PD）的家族性和散发性病例中均已发现富含亮氨酸重复激酶2基因（LRRK2）的几种突变。位于激酶（MAPKKK）结构域的G2019S是PD中LRRK2基因最常见的突变。两个相邻突变（I2012T和I2020T）被定位到同一结构域，提示这些突变具有共同的致病机制。由于PD的表型与特发性震颤（ET）重叠，我们在一组272例ET患者中研究了LRRK2 G2019S、I2012T和I2020T突变。在我们的ET队列中未发现突变，因此，我们得出结论，LRKK2 I2012T、G2019S和I2020T变异是白种人ET的罕见病因。
