Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.
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DOI：
10.1016/j.neurobiolaging.2012.04.005
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发表时间：
2012-09
影响因子：
4.2
通讯作者：
Traynor BJ
中科院分区：
文献类型：
--
作者：
Abramzon Y;Johnson JO;Scholz SW;Taylor JP;Brunetti M;Calvo A;Mandrioli J;Benatar M;Mora G;Restagno G;Chiò A;Traynor BJ
我们最近报道，VCP基因突变是1-2%的家族性肌萎缩侧索硬化症(ALS)的原因，但它们在散发性ALS发病机制中的作用尚不清楚。我们对701例散发性ALS患者进行了VCP突变筛查。在3例US病例中发现了三种致病变异体(p.Arg159Cys、p.Asn387Thr和p.R662C)，每一例都表现出进行性的上、下运动神经元体征，符合El Ecorial诊断标准确定的ALS。我们的数据表明，VCP突变可能是明显散发性ALS的基础，但在这种形式的疾病中所占比例不到1%。
We recently reported that mutations in the VCP gene are a cause of 1–2% of familial amyotrophic lateral sclerosis (ALS) cases, but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of VCP in 701 sporadic ALS cases. Three pathogenic variants (p.Arg159Cys, p.Asn387Thr, and p.R662C) were found in three US cases, each of whom presented with progressive upper and lower motor neuron signs consistent with definite ALS by El Escorial diagnostic criteria. Our data indicate that VCP mutations may underlie apparently sporadic ALS, but account for less than 1% of this form of disease.
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影响因子：
4.2
作者：
Chio, Adriano;Restagno, Gabriella;Brunetti, Maura;Ossola, Irene;Calvo, Andrea;Mora, Gabriele;Sabatelli, Mario;Monsurro, Maria Rosaria;Battistini, Stefania;Mandrioli, Jessica;Salvi, Fabrizio;Spataro, Rossella;Schymick, Jennifer;Traynor, Bryan J.;La Bella, Vincenzo
通讯作者：
La Bella, Vincenzo
影响因子：
4.2
作者：
Lai, Shiao-Lin;Abramzon, Yevgeniya;Schymick, Jennifer C.;Stephan, Dietrich A.;Dunckley, Travis;Dillman, Allissa;Cookson, Mark;Calvo, Andrea;Battistini, Stefania;Giannini, Fabio;Caponnetto, Claudia;Luigi, Giovanni;Spataro, Rossella;Monsurro, Maria Rosaria;Tedeschi, Gioacchino;Marinou, Kalliopi;Sabatelli, Mario;Conte, Amelia;Mandrioli, Jessica;Sola, Patrizia;Salvi, Fabrizio;Bartolomei, Ilaria;Lombardo, Federica;Mora, Gabriele;Restagno, Gabriella;Chio, Adriano;Traynor, Bryan J.
通讯作者：
Traynor, Bryan J.
DOI：
10.1016/s1474-4422(12)70043-1
发表时间：
2012-04
期刊：
The Lancet. Neurology
影响因子：
--
作者：
Majounie E;Renton AE;Mok K;Dopper EG;Waite A;Rollinson S;Chiò A;Restagno G;Nicolaou N;Simon-Sanchez J;van Swieten JC;Abramzon Y;Johnson JO;Sendtner M;Pamphlett R;Orrell RW;Mead S;Sidle KC;Houlden H;Rohrer JD;Morrison KE;Pall H;Talbot K;Ansorge O;Chromosome 9-ALS/FTD Consortium;French research network on FTLD/FTLD/ALS;ITALSGEN Consortium;Hernandez DG;Arepalli S;Sabatelli M;Mora G;Corbo M;Giannini F;Calvo A;Englund E;Borghero G;Floris GL;Remes AM;Laaksovirta H;McCluskey L;Trojanowski JQ;Van Deerlin VM;Schellenberg GD;Nalls MA;Drory VE;Lu CS;Yeh TH;Ishiura H;Takahashi Y;Tsuji S;Le Ber I;Brice A;Drepper C;Williams N;Kirby J;Shaw P;Hardy J;Tienari PJ;Heutink P;Morris HR;Pickering-Brown S;Traynor BJ
通讯作者：
Traynor BJ
影响因子：
3.7
作者：
Guerreiro RJ;Schymick JC;Crews C;Singleton A;Hardy J;Traynor BJ
通讯作者：
Traynor BJ
影响因子：
4.2
作者：
Bersano, Anna;Del Bo, Roberto;Corti, Stefania
通讯作者：
Corti, Stefania