Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

被引：3

作者：

Bannwarth, Sylvie ^{[1
,2
]}

Ait-El-Mkadem, Samira ^{[1
,2
]}

Chaussenot, Annabelle ^{[1
,2
]}

Genin, Emmanuelle C. ^{[1
]}

Lacas-Gervais, Sandra ^{[3
]}

Fragaki, Konstantina ^{[1
,2
]}

Berg-Alonso, Laetitia ^{[1
]}

Kageyama, Yusuke ^{[4
]}

Serre, Valerie ^{[5
]}

Moore, David ^{[6
]}

Verschueren, Annie ^{[7
]}

Rouzier, Cecile ^{[1
,2
]}

Le Ber, Isabelle ^{[8
,9
]}

Auge, Gaelle ^{[1
,2
]}

Cochaud, Charlotte ^{[2
]}

Lespinasse, Francoise ^{[1
]}

N'Guyen, Karine ^{[10
]}

de Septenville, Anne ^{[8
]}

Brice, Alexis ^{[8
]}

Yu-Wai-Man, Patrick ^{[6
,11
]}

Sesaki, Hiromi ^{[4
]}

Pouget, Jean ^{[7
]}

Paquis-Flucklinger, Veronique ^{[1
,2
]}

机构：

[1] Univ Nice Sophia Antipolis, Sch Med, UMR CNRS INSERM UNS 7284 U1081, IRCAN, Nice, France

[2] Nice Teaching Hosp, Dept Med Genet, Natl Ctr Mitochondrial Dis, Nice, France

[3] Univ Nice Sophia Antipolis, Joint Ctr Appl Electron Microscopy, Nice, France

[4] Johns Hopkins Univ Sch Med, Dept Cell Biol, Baltimore, MD 21205 USA

[5] Paris Diderot Univ, CNRS UMR7592, Inst Jacques Monod, Paris, France

[6] Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

[7] Marseille Teaching Hosp, Timone Hosp, Dept Neurol, Marseille, France

[8] Univ Paris 06, Univ Sorbonne, Inst Cerveau & Moelle Epiniere ICM, UM75,Inserm U1127,Cnrs UMR7225, F-75013 Paris, France

[9] Grp Hosp Pitie Salpetriere, AP HP, Natl Reference Ctr Rare Dementias, F-75634 Paris, France

[10] Marseille Teaching Hosp, Timone Hosp, Dept Med Genet, Marseille, France

[11] Royal Victoria Infirm, Newcastle Eye Ctr, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England

来源：

BRAIN | 2014年 / 137卷

关键词：

FRONTOTEMPORAL DEMENTIA;

D O I：

10.1093/brain/awu300

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：2

共 7 条

[1] A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement [J].

Bannwarth, Sylvie ;

Ait-El-Mkadem, Samira ;

Chaussenot, Annabelle ;

Genin, Emmanuelle C. ;

Lacas-Gervais, Sandra ;

Fragaki, Konstantina ;

Berg-Alonso, Laetitia ;

Kageyama, Yusuke ;

Serre, Valerie ;

Moore, David G. ;

Verschueren, Annie ;

Rouzier, Cecile ;

Le Ber, Isabelle ;

Auge, Gaelle ;

Cochaud, Charlotte ;

Lespinasse, Francoise ;

N'Guyen, Karine ;

de Septenville, Anne ;

Brice, Alexis ;

Yu-Wai-Man, Patrick ;

Sesaki, Hiromi ;

Pouget, Jean ;

Paquis-Flucklinger, Veronique .

BRAIN, 2014, 137 :2329-2345

[2] Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients [J].

Chaussenot, Annabelle ;

Le Ber, Isabelle ;

Ait-El-Mkadem, Samira ;

Camuzat, Agnes ;

de Septenville, Anne ;

Bannwarth, Sylvie ;

Genin, Emmanuelle C. ;

Serre, Valerie ;

Auge, Gaelle ;

Brice, Alexis ;

Pouget, Jean ;

Paquis-Flucklinger, Veronique .

NEUROBIOLOGY OF AGING, 2014, 35 (12) :2884.e1-2884.e4

[3] Frontotemporal dementia and its subtypes: a genome-wide association study [J].

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Hernandez, Dena G. ;

Nalls, Michael A. ;

Rohrer, Jonathan D. ;

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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 ;

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Ghidoni, Roberta ;

Forloni, Gianluigi ;

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Fenoglio, Chiara ;

Serpente, Maria ;

Scarpini, Elio ;

Clarimon, Jordi ;

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Waldo, Maria Landqvist ;

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Mann, David M. A. ;

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LANCET NEUROLOGY, 2014, 13 (07) :686-699

[4] Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis [J].

Johnson, Janel O. ;

Glynn, Shannon M. ;

Gibbs, Raphael ;

Nalls, Mike A. ;

Sabatelli, Mario ;

Restagno, Gabriella ;

Drory, Vivian E. ;

Chio, Adriano ;

Rogaeva, Ekaterina ;

Traynor, Bryan J. .

BRAIN, 2014, 137

[5]

Leblond C.S., 2014, Experimental Neurology

[6]

Mueller K, 2014, BRAIN, DOI [10.1093/brain/awu227., DOI 10.1093/BRAIN/AWU227]

[7] Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis? [J].

van Rheenen, Wouter ;

Diekstra, Frank P. ;

van den Berg, Leonard H. ;

Veldink, Jan H. .

BRAIN, 2014, 137

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