Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232-8552, USA.
Parkinsonism Relat Disord. 2013 Sep;19(9):818-20. doi: 10.1016/j.parkreldis.2013.04.009. Epub 2013 May 6.
The genetic etiology of essential tremor remains unknown despite the significant proportion of familial cases. The search for monogenic causes has repeatedly failed until recent identification of three disease-causing mutations in FUS (fused in sarcoma), a gene previously linked to a rare forms of familial amyotrophic lateral sclerosis with frontotemporal dementia. The genetic epidemiology of FUS in ET is unknown. Herein, we screened 104 patients from 52 pedigrees for mutations in the coding sequence of FUS. Two of the most genetically distant affected individuals from each pedigree were selected for Sanger sequencing to potentially increase the success of genetic analysis. We did not identify a single pathogenic mutation. Our data suggest that FUS mutations are a rare cause of familial ET.
尽管家族性病例占很大比例,但原发性震颤的遗传病因仍不清楚。尽管一直在寻找单基因病因,但直到最近才在 FUS(肉瘤融合)中发现了三个致病突变,该基因先前与伴有额颞叶痴呆的罕见家族性肌萎缩侧索硬化症有关。FUS 在 ET 中的遗传流行病学尚不清楚。在此,我们对来自 52 个家族的 104 名患者进行了 FUS 编码序列的突变筛查。从每个家族中选择了两个遗传距离最远的受影响个体进行 Sanger 测序,以提高遗传分析的成功率。我们没有发现一个致病性突变。我们的数据表明,FUS 突变是家族性 ET 的罕见病因。