CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

被引：34

作者：

Chio, Adriano ^{[1
,2
]}

Mora, Gabriele ^{[3
]}

Sabatelli, Mario ^{[4
,5
]}

Caponnetto, Claudia ^{[6
]}

Traynor, Bryan J. ^{[7
]}

Johnson, Janel O. ^{[7
]}

Nalls, Mike A. ^{[8
]}

Calvo, Andrea ^{[1
,2
]}

Moglia, Cristina ^{[1
]}

Borghero, Giuseppe ^{[9
,10
]}

Monsurro, Maria Rosaria ^{[11
]}

La Bella, Vincenzo ^{[12
]}

Volanti, Paolo ^{[13
]}

Simone, Isabella ^{[14
]}

Salvi, Fabrizio ^{[15
]}

Logullo, Francesco O. ^{[16
]}

Nilo, Riva ^{[17
,18
]}

Battistini, Stefania ^{[19
]}

Mandrioli, Jessica ^{[20
]}

Tanel, Raffaella ^{[21
]}

Murru, Maria Rita ^{[22
,23
]}

Mandich, Paola ^{[6
]}

Zollino, Marcella ^{[24
]}

Conforti, Francesca L. ^{[25
]}

Brunetti, Maura ^{[1
,26
]}

Barberis, Marco ^{[1
,26
]}

Restagno, Gabriella ^{[26
]}

Penco, Silvana ^{[27
]}

Lunetta, Christian ^{[28
]}

机构：

[1] Univ Torino, ALS Ctr, Rita Levi Montalcini Dept Neurosci Neurol 2, I-10126 Turin, Italy

[2] Univ Citta Salute & Sci, Azienda Osped, Turin, Italy

[3] IRCCS, Dept Neurol Rehabil, Fdn Salvatore Maugeri, Ist Sci Milan, Milan, Italy

[4] Catholic Univ, Neurol Inst, Rome, Italy

[5] ICOMM Assoc ALS Res, Rome, Italy

[6] Univ Genoa, Univ San Martino IST, IRCCS Azienda Osped, Dept Neurosci Ophthalmol Genet Rehabil & Chid Hlt, I-16126 Genoa, Italy

[7] NIA, Neuromuscular Dis Res Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[8] NIA, Mol Genet Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[9] Azienda Univ, Dept Neurol, Osped Cagliari, Cagliari, Italy

[10] Univ Cagliari, Cagliari, Italy

[11] Univ Naples 2, Dept Neurol Sci, Naples, Italy

[12] Bio Ne C Univ Palermo, ALS Clin Res Ctr, Palermo, Italy

[13] IRCCS, Salvatore Maugeri Fdn, ALS Ctr, Neurorehabilitat Unit,Sci Inst Mistretta, Mistretta, Italy

[14] Univ Bari, Dept Basic Med Sci Neurosci & Sense Organs, Bari, Italy

[15] IRCCS, Dept Neurol, Ctr Diag & Cure Rare Dis, Inst Neurol Sci, Bologna, Italy

[16] Marche Polytech Univ, Neurol Clin, Ancona, Italy

[17] IRCCS, San Raffaele Sci Inst, Dept Neurol, Milan, Italy

[18] IRCCS, San Raffaele Sci Inst, Inst Expt Neurol INSPE, Milan, Italy

[19] Univ Siena, Dept Med Surg & Neurol Sci, I-53100 Siena, Italy

[20] Univ Modena, S Agostino Estense Hosp, Dept Neurosci, I-41100 Modena, Italy

[21] Santa Chiara Hosp, Dept Neurol, Trento, Italy

[22] Univ Cagliari, ASL Cagliari 8, Multiple Sclerosis Ctr, Cagliari, Italy

[23] Univ Cagliari, Dept Publ Hlth Clin & Mol Med, Cagliari, Italy

[24] Univ Cattolica Sacro Cuore, Inst Med Genet, Rome, Italy

[25] CNR, Inst Neurol Sci, Cosenza, Italy

[26] Univ Citta Salute & Sci, Azienda Osped, Mol Genet Lab, Turin, Italy

[27] Osped Niguarda Ca Granda, Dept Lab Med Med Genet, Milan, Italy

[28] Serena Onlus Fdn, NEuroMuscular Omnicenter, Milan, Italy

来源：

NEUROBIOLOGY OF AGING | 2015年 / 36卷 / 04期

基金：

美国国家卫生研究院;

关键词：

Amyotrophic lateral sclerosis; Familial; Sporadic; CHCHD10; CHCHD10; DIAGNOSIS; CRITERIA; GENE;

D O I：

10.1016/j.neurobiolaging.2015.01.017

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：

Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n = 64) and apparently sporadic ALS (n = 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHCHD10 mutations account for similar to 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：1767.e3 / 1767.e6

页数：4

共 9 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] El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis [J].

Brooks, BR ;

Miller, RG ;

Swash, M ;

Munsat, TL .

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS, 2000, 1 (05) :293-299

[3] 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

[4] Extensive genetics of ALS A population-based study in Italy [J].

Chio, Adriano ;

Calvo, Andrea ;

Mazzini, Letizia ;

Cantello, Roberto ;

Mora, Gabriele ;

Moglia, Cristina ;

Corrado, Lucia ;

D'Alfonso, Sandra ;

Majounie, Elisa ;

Renton, Alan ;

Pisano, Fabrizio ;

Ossola, Irene ;

Brunetti, Maura ;

Traynor, Bryan J. ;

Restagno, Gabriella .

NEUROLOGY, 2012, 79 (19) :1983-1989

[5] 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

[6] Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy [J].

Montuschi, Anna ;

Iazzolino, Barbara ;

Calvo, Andrea ;

Moglia, Cristina ;

Lopiano, Leonardo ;

Restagno, Gabriella ;

Brunetti, Maura ;

Ossola, Irene ;

Lo Presti, Anna ;

Cammarosano, Stefania ;

Canosa, Antonio ;

Chio, Adriano .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2015, 86 (02) :168-173

[7] Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease [J].

Mueller, Kathrin ;

Andersen, Peter M. ;

Huebers, Annemarie ;

Marroquin, Nicolai ;

Volk, Alexander E. ;

Danzer, Karin M. ;

Meitinger, Thomas ;

Ludolph, Albert C. ;

Strom, Tim M. ;

Weishaupt, Jochen H. .

BRAIN, 2014, 137

[8] State of play in amyotrophic lateral sclerosis genetics [J].

Renton, Alan E. ;

Chio, Adriano ;

Traynor, Bryan J. .

NATURE NEUROSCIENCE, 2014, 17 (01) :17-23

[9] Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis [J].

Strong, Michael J. ;

Grace, Gloria M. ;

Freedman, Morris ;

Lomen-Hoerth, Cathy ;

Woolley, Susan ;

Goldstein, Laura H. ;

Murphy, Jennifer ;

Shoesmith, Christen ;

Rosenfeld, Jeffery ;

Leigh, P. Nigel ;

Bruijn, Lucie ;

Ince, Paul ;

Figlewicz, Denise .

AMYOTROPHIC LATERAL SCLEROSIS, 2009, 10 (03) :131-146

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