Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
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回复：CHCHD10突变确实与家族性肌萎缩侧索硬化症相关吗？
DOI：
10.1093/brain/awu300
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
LeBer,Isabelle
中科院分区：
文献类型：
--
作者：
Bannwarth,Sylvie;Ait-El-Mkadem,Samira;Chaussenot,Annabelle;Genin,EmmanuelleC;Lacas-Gervais,Sandra;Fragaki,Konstantina;Berg-Alonso,Laetitia;Kageyama,Yusuke;Serre,Valérie;Moore,David;Verschueren,Annie;Rouzier,Cécile;LeBer,Isabelle
先生，在提交给Brain的一封致编辑的信中，van Rheenen和他的同事(2014)批判性地评估了CHCHD10基因在家族性肌萎缩侧索硬化症(ALS)中的参与。他们还质疑CHCHD10与额颞叶痴呆(FTD)-肌萎缩侧索硬化症(ALS)的关系，因为他们指出：“这些新的变种确实导致了这些家族的ALS/FTD，这一假设源于这些变种在不同物种中保存良好的事实”。两位作者在信中概述了一些方法上的关切，我们欢迎有机会澄清提出的一些问题。在我们最初发表在《脑》杂志上的文章中，我们描述了一个新的杂合子CHCHD10突变(c.176C>；T；p.Ser59Leu)，该突变在一个法国大家庭中具有晚发性表型，包括类似于FTD的认知障碍、运动神经元病、小脑性共济失调和伴有多个mtDNA缺失的线粒体肌病(Bannwarth等人，2014)。我们在21个经病理证实的FTD-ALS家系中的一个家系中发现了相同的致病突变。这些结果为CHCHD10是一个新的FTD-ALS致病基因提供了确凿的证据，并不是说P.Ser59Leu变异体的致病性是基于59位丝氨酸残基的保守。事实上，法国大家庭内部的隔离是该突变致病性的主要证据，该突变存在于8名接受检测的患者中，而在两名分别在79岁和69岁进行正常神经学检查的健康个体中缺失(Bannwarth等人，2014年)。在过度表达CHCHD10S59L突变体的HeLa细胞中发现的线粒体脊改变和断裂与在患者成纤维细胞中观察到的相似，这些结果也提供了DOI：10.1093/Brain/awu300 Brain 2014：137；1-2|e314
Sir, In a Letter to the Editor submitted to Brain, van Rheenen and colleagues (2014) critically appraise the involvement of the CHCHD10 gene in familial amyotrophic lateral sclerosis (ALS). They also question the involvement of CHCHD10 in frontotemporal dementia (FTD)-ALS when they state that ‘the assumption that the novel variants indeed cause ALS/FTD in these families is derived from the fact that these variants are well conserved across different species’. The authors outline a number of methodological concerns in their letter and we welcome this opportunity to clarify some of the points that were raised. In our original article published in Brain, we described a novel heterozygous CHCHD10 mutation (c. 176C> T; p. Ser59Leu) in a large French family with a late-onset phenotype including cognitive decline resembling FTD, motor neuron disease, cerebellar ataxia and mitochondrial myopathy with multiple mtDNA deletions (Bannwarth et al., 2014). We found the same pathogenic mutation in one family among a cohort of 21 families with pathologically proven FTD-ALS. These results provide solid evidence that CHCHD10 is a novel gene responsible for FTD-ALS and it is not correct to say that the pathogenicity of p. Ser59Leu variant is based on the conservation of the serine residue at position 59. Indeed, the segregation within the large French family is the major evidence for the pathogenicity of this mutation that was present in the eight patients tested and absent in two healthy individuals with normal neurological examination at 79 and 69 years of age, respectively (Bannwarth et al., 2014). Cristae alterations and fragmentation of the mitochondrial network found in HeLa cells overexpressing the CHCHD10S59L mutant are similar to those observed in patient fibroblasts and these results also provide doi: 10.1093/brain/awu300 Brain 2014: 137; 1–2| e314
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影响因子：
3.5
作者：
Pulit SL;Leusink M;Menelaou A;de Bakker PI
通讯作者：
de Bakker PI
影响因子：
48
作者：
Ferrari, Raffaele;Hernandez, Dena G.;Nalls, Michael A.;Rohrer, Jonathan D.;Ramasamy, Adaikalavan;Kwok, John B. J.;Dobson-Stone, Carol;Brooks, William S.;Schofield, Peter R.;Halliday, Glenda M.;Hodges, John R.;Piguet, Olivier;Bartley, Lauren;Thompson, Elizabeth;Haan, Eric;Hernandez, Isabel;Ruiz, Agustin;Boada, Merce;Borroni, Barbara;Padovani, Alessandro;Cruchaga, Carlos;Cairns, Nigel J.;Benussi, Luisa;Binetti, Giuliano;Ghidoni, Roberta;Forloni, Gianluigi;Galimberti, Daniela;Fenoglio, Chiara;Serpente, Maria;Scarpini, Elio;Clarimon, Jordi;Lleo, Alberto;Blesa, Rafael;Waldo, Maria Landqvist;Nilsson, Karin;Nilsson, Christer;Mackenzie, Ian R. A.;Hsiung, Ging-Yuek R.;Mann, David M. A.;Grafman, Jordan;Morris, Christopher M.;Attems, Johannes;Griffiths, Timothy D.;McKeith, Ian G.;Thomas, Alan J.;Pietrini, P.;Huey, Edward D.;Wassermann, Eric M.;Baborie, Atik;Jaros, Evelyn;Tierney, Michael C.;Pastor, Pau;Razquin, Cristina;Ortega-Cubero, Sara;Alonso, Elena;Perneczky, Robert;Diehl-Schmid, Janine;Alexopoulos, Panagiotis;Kurz, Alexander;Rainero, Innocenzo;Rubino, Elisa;Pinessi, Lorenzo;Rogaeva, Ekaterina;St George-Hyslop, Peter;Rossi, Giacomina;Tagliavini, Fabrizio;Giaccone, Giorgio;Rowe, James B.;Schlachetzki, Johannes C. M.;Uphill, James;Collinge, John;Mead, Simon;Danek, Adrian;Van Deerlin, Vivianna M.;Grossman, Murray;Trojanowski, John Q.;van der Zee, Julie;Deschamps, William;Van Langenhove, Tim;Cruts, Marc;Van Broeckhoven, Christine;Cappa, Stefano F.;Le Ber, Isabelle;Hannequin, Didier;Golfier, Veronique;Vercelletto, Martine;Brice, Alexis;Nacmias, Benedetta;Sorbi, Sandra;Bagnoli, Silvia;Piaceri, Irene;Nielsen, Jorgen E.;Hjermind, Lena E.;Riemenschneider, Matthias;Mayhaus, Manuel;Ibach, Bernd;Gasparoni, Gilles;Pichler, Sabrina;Gu, Wei;Rossor, Martin N.;Fox, Nick C.;Warren, Jason D.;Spillantini, Maria Grazia;Morris, Huw R.;Rizzu, Patrizia;Heutink, Peter;Snowden, Julie S.;Rollinson, Sara;Richardson, Anna;Gerhard, Alexander;Bruni, Amalia C.;Maletta, Raffaele;Frangipane, Francesca;Cupidi, Chiara;Bernardi, Livia;Anfossi, Maria;Gallo, Maura;Conidi, Maria Elena;Smirne, Nicoletta;Rademakers, Rosa;Baker, Matt;Dickson, Dennis W.;Graff-Radford, Neill R.;Petersen, Ronald C.;Knopman, David;Josephs, Keith A.;Boeve, Bradley F.;Parisi, Joseph E.;Seeley, William W.;Miller, Bruce L.;Karydas, Anna M.;Rosen, Howard;van Swieten, John C.;Dopper, Elise G. P.;Seelaar, Harro;Al Pijnenburg, Yolande;Scheltens, Philip;Logroscino, Giancarlo;Capozzo, Rosa;Novelli, Valeria;Puca, Annibale A.;Franceschi, Massimo;Postiglione, Alfredo;Milan, Graziella;Sorrentino, Paolo;Kristiansen, Mark;Chiang, Huei-Hsin;Graff, Caroline;Pasquier, Florence;Rollin, Adeline;Deramecourt, Vincent;Lebert, Florence;Kapogiannis, Dimitrios;Ferrucci, Luigi;Pickering-Brown, Stuart;Singleton, Andrew B.;Hardy, John;Momeni, Parastoo
通讯作者：
Momeni, Parastoo
影响因子：
14.5
作者：
Bannwarth, Sylvie;Ait-El-Mkadem, Samira;Paquis-Flucklinger, Veronique
通讯作者：
Paquis-Flucklinger, Veronique
影响因子：
2.1
作者：
Dudbridge, Frank;Gusnanto, Arief
通讯作者：
Gusnanto, Arief
影响因子：
2.1
作者：
Pe'er, Itsik;Yelensk, Roman;Daly, Mark J.
通讯作者：
Daly, Mark J.