Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans

被引：24

作者：

Ortega-Cubero, S. ^{[1
,2
]}

Lorenzo-Betancor, O. ^{[1
]}

Lorenzo, E. ^{[1
]}

Alonso, E. ^{[1
]}

Coria, F. ^{[3
]}

Pastor, M. A. ^{[2
,4
]}

Fernandez-Santiago, R. ^{[4
,5
]}

Marti, M. J. ^{[4
,5
]}

Ezquerra, M. ^{[4
,5
]}

Valldeoriola, F. ^{[5
]}

Compta, Y. ^{[5
]}

Tolosa, E. ^{[4
,5
]}

Agundez, J. A. ^{[6
]}

Jimenez-Jimenez, F. J. ^{[7
]}

Gironell, A. ^{[8
]}

Clarimon, J. ^{[4
,9
]}

de Castro, P. ^{[2
]}

Garcia-Martin, E. ^{[10
]}

Alonso-Navarro, H. ^{[7
]}

Pastor, P. ^{[1
,2
,4
]}

机构：

[1] Univ Navarra, Div Neurosci, Ctr Appl Med Res, Neurogenet Lab, Pamplona 31008, Spain

[2] Univ Navarra, Sch Med, Clin Univ Navarra, Dept Neurol, Pamplona 31008, Spain

[3] Son Espases Univ Hosp, Neurol Serv, Mallorca, Spain

[4] Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

[5] Hosp Clin Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv, Inst Clin Neurociencies, Barcelona, Spain

[6] Univ Extremadura, Dept Pharmacol, Caceres, Spain

[7] Hosp Univ Sureste, Neurol Sect, Madrid, Spain

[8] Autonomous Univ Barcelona, St Pau Hosp, Dept Neurol, Movement Disorders Unit, Catalonia, Spain

[9] Univ Autonoma Barcelona, Hosp St Pau, Inst Invest Biomed St Pau, Dept Neurol, E-08193 Barcelona, Spain

[10] Univ Extremadura, Dept Biochem & Mol Biol, Caceres, Spain

来源：

NEUROBIOLOGY OF AGING | 2013年 / 34卷 / 10期

关键词：

FUS; Essential tremor; Sequencing; AMYOTROPHIC-LATERAL-SCLEROSIS; FUS/TLS GENE;

D O I：

10.1016/j.neurobiolaging.2013.04.024

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

FUS/TLS (denoting fused in sarcoma/translocated in liposarcoma [MIM 137070]) codifies an RNA binding protein. Mutations in this gene cause amyotrophic lateral sclerosis (ALS; MIM 608030). Essential tremor (ET [MIM 190300]) is the most frequent movement disorder. Despite its strong familiar aggregation, recently a whole exome sequencing study has identified FUS mutations as a cause of familial ET. To determine whether mutations in FUS are also common in other populations, we sequenced FUS gene in 178 unrelated Spanish subjects with ET. We detected only an intronic single-pair nucleotide deletion (c.1293-37delC), which was predicted to affect mRNA splicing. However, leukocyte mRNA analysis showed no changes in FUS expression. In conclusion, coding or splicing FUS mutations are not a frequent cause of ET in the Spanish population. (c) 2013 Elsevier Inc. All rights reserved.

引用

页码：2441.e9 / 2441.e11

页数：3

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