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.

译文

在帕金森氏病 (PD) 的家族性和散发性病例中,已经发现了富含亮氨酸的重复激酶2基因 (LRRK2) 的几个突变。G2019S位于激酶 (MAPKKK) 结构域,是PD中LRRK2基因中最常见的突变,两个相邻的突变 (I2012T和I2020T) 被定位到同一结构域,表明这些突变的共同致病机制。由于PD的表型与原发性震颤 (ET) 重叠,我们在272例ET患者队列中研究了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变体是高加索ET的罕见原因。

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