FUS in familial essential tremor - the search for common causes is still on.
FUS in familial essential tremor - the search for common causes is still on.
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DOI：
10.1016/j.parkreldis.2013.04.009
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发表时间：
2013-09
影响因子：
4.1
通讯作者：
P. Hedera;T. Davis;Fenna Phibbs;P. Charles;M. LeDoux
中科院分区：
文献类型：
--
作者：
P. Hedera;T. Davis;Fenna Phibbs;P. Charles;M. LeDoux
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 inFUS(fused in sarcoma), a gene previously linked to a rare forms of familial amyotrophic lateral sclerosis with frontotemporal dementia. The genetic epidemiology ofFUSin ET is unknown. Herein, we screened 104 patients from 52 pedigrees for mutations in the coding sequence ofFUS. 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 thatFUSmutations are a rare cause of familial ET.
