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

Mario Sabatelli; Marcella Zollino; Giuseppe Marangi; Amelia Conte; Marco Luigetti; Serena Lattante; Adriano Chiò; Gabriele Mora; Claudia Caponnetto; Bryan J. Traynor; Janel O. Johnson; Mike A. Nalls; Andrea Calvo; Cristina Moglia; Giuseppe Borghero; Maria Rosaria Monsurrò; Vincenzo La Bella; Paolo Volanti; Isabella Simone; Fabrizio Salvi; Francesco O. Logullo; Riva Nilo; Stefania Battistini; Jessica Mandrioli; Raffaella Tanel; Maria Rita Murru; Paola Mandich; Francesca L. Conforti; Maura Brunetti; Marco Barberis; Gabriella Restagno; Silvana Penco; Christian Lunetta; Fabio Giannini; Claudia Ricci; Gianluigi Mancardi; Ilaria Bartolomei; Massimo Corbo; Irene Ossola; Giancarlo Logroscino; Gioacchino Tedeschi; Maura Pugliatti; Giuseppe Lauria Pinter; Shannon Glynn; J. Raphael Gibbs; Stefania Cammarosano; Antonio Canosa; Umberto Manera; Davide Bertuzzo; Altonio Ilardi; Kalliopi Marinou; Riccardo Sideri; Fabrizio Pisano; Rossella Spataro; Tiziana Colletti; Gianluca Floris; Antonino Cannas; Valeria Piras; Francesco Marrosu; Maria Giovanna Marrosu; Leslie D. Parish; Anna Ticca; Angelo Pirisi; Enzo Ortu; Tea B. Cau; Daniela Loi; Sebastiano Traccis; Nicola Fini; Eleni Georgoulopoulou; Federico Casale; Giuseppe Marrali; Giuseppe Fuda; Paolina Solamone; Eleonora Maestri; Rosalucia Mazzei; Viviana Cristillo; Roberta Puddu; Emanuela Costantino; Carla Pani; Carla Caredda; Paola Origone; Lorena Mosca; Margherita Capasso; Mara Turri; Antonio Petrucci; Luico Tremolizzo; Marialaura Santarelli

doi:10.1016/j.neurobiolaging.2015.01.017

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

Mario Sabatelli, Marcella Zollino, Giuseppe Marangi, Amelia Conte, Marco Luigetti, Serena Lattante, Adriano Chiò, Gabriele Mora, Claudia Caponnetto, Bryan J. Traynor, Janel O. Johnson, Mike A. Nalls, Andrea Calvo, Cristina Moglia, Giuseppe Borghero, Maria Rosaria Monsurrò, Vincenzo La Bella, Paolo Volanti, Isabella Simone, Fabrizio SalviFrancesco O. Logullo, Riva Nilo, Stefania Battistini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Francesca L. Conforti, Maura Brunetti, Marco Barberis, Gabriella Restagno, Silvana Penco, Christian Lunetta, Fabio Giannini, Claudia Ricci, Gianluigi Mancardi, Ilaria Bartolomei, Massimo Corbo, Irene Ossola, Giancarlo Logroscino, Gioacchino Tedeschi, Maura Pugliatti, Giuseppe Lauria Pinter, Shannon Glynn, J. Raphael Gibbs, Stefania Cammarosano, Antonio Canosa, Umberto Manera, Davide Bertuzzo, Altonio Ilardi, Kalliopi Marinou, Riccardo Sideri, Fabrizio Pisano, Rossella Spataro, Tiziana Colletti, Gianluca Floris, Antonino Cannas, Valeria Piras, Francesco Marrosu, Maria Giovanna Marrosu, Leslie D. Parish, Anna Ticca, Angelo Pirisi, Enzo Ortu, Tea B. Cau, Daniela Loi, Sebastiano Traccis, Nicola Fini, Eleni Georgoulopoulou, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Paolina Solamone, Eleonora Maestri, Rosalucia Mazzei, Viviana Cristillo, Roberta Puddu, Emanuela Costantino, Carla Pani, Carla Caredda, Paola Origone, Lorena Mosca, Margherita Capasso, Mara Turri, Antonio Petrucci, Luico Tremolizzo, Marialaura Santarelli

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

38 Citazioni (Scopus)

Abstract

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 ∼ 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.

Lingua originale	English
pagine (da-a)	1767.e3-1767.e3-6
Rivista	Neurobiology of Aging
Volume	36
DOI	https://doi.org/10.1016/j.neurobiolaging.2015.01.017
Stato di pubblicazione	Pubblicato - 2015

Keywords

Amyotrophic lateral sclerosis
CHCHD10
Familial
Sporadic

Accesso al documento

10.1016/j.neurobiolaging.2015.01.017

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Sabatelli, M., Zollino, M., Marangi, G., Conte, A., Luigetti, M., Lattante, S., Chiò, A., Mora, G., Caponnetto, C., Traynor, B. J., Johnson, J. O., Nalls, M. A., Calvo, A., Moglia, C., Borghero, G., Monsurrò, M. R., La Bella, V., Volanti, P., Simone, I., ... Santarelli, M. (2015). CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients. Neurobiology of Aging, 36, 1767.e3-1767.e3-6. https://doi.org/10.1016/j.neurobiolaging.2015.01.017

Sabatelli, Mario ; Zollino, Marcella ; Marangi, Giuseppe ; Conte, Amelia ; Luigetti, Marco ; Lattante, Serena ; Chiò, Adriano ; Mora, Gabriele ; Caponnetto, Claudia ; Traynor, Bryan J. ; Johnson, Janel O. ; Nalls, Mike A. ; Calvo, Andrea ; Moglia, Cristina ; Borghero, Giuseppe ; Monsurrò, Maria Rosaria ; La Bella, Vincenzo ; Volanti, Paolo ; Simone, Isabella ; Salvi, Fabrizio ; Logullo, Francesco O. ; Nilo, Riva ; Battistini, Stefania ; Mandrioli, Jessica ; Tanel, Raffaella ; Murru, Maria Rita ; Mandich, Paola ; Conforti, Francesca L. ; Brunetti, Maura ; Barberis, Marco ; Restagno, Gabriella ; Penco, Silvana ; Lunetta, Christian ; Giannini, Fabio ; Ricci, Claudia ; Mancardi, Gianluigi ; Bartolomei, Ilaria ; Corbo, Massimo ; Ossola, Irene ; Logroscino, Giancarlo ; Tedeschi, Gioacchino ; Pugliatti, Maura ; Pinter, Giuseppe Lauria ; Glynn, Shannon ; Gibbs, J. Raphael ; Cammarosano, Stefania ; Canosa, Antonio ; Manera, Umberto ; Bertuzzo, Davide ; Ilardi, Altonio ; Marinou, Kalliopi ; Sideri, Riccardo ; Pisano, Fabrizio ; Spataro, Rossella ; Colletti, Tiziana ; Floris, Gianluca ; Cannas, Antonino ; Piras, Valeria ; Marrosu, Francesco ; Marrosu, Maria Giovanna ; Parish, Leslie D. ; Ticca, Anna ; Pirisi, Angelo ; Ortu, Enzo ; Cau, Tea B. ; Loi, Daniela ; Traccis, Sebastiano ; Fini, Nicola ; Georgoulopoulou, Eleni ; Casale, Federico ; Marrali, Giuseppe ; Fuda, Giuseppe ; Solamone, Paolina ; Maestri, Eleonora ; Mazzei, Rosalucia ; Cristillo, Viviana ; Puddu, Roberta ; Costantino, Emanuela ; Pani, Carla ; Caredda, Carla ; Origone, Paola ; Mosca, Lorena ; Capasso, Margherita ; Turri, Mara ; Petrucci, Antonio ; Tremolizzo, Luico ; Santarelli, Marialaura. / CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients. In: Neurobiology of Aging. 2015 ; Vol. 36. pagg. 1767.e3-1767.e3-6.

@article{25ac8e16db0f40cba210ab701e70eee2,

title = "CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients",

abstract = "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 ∼ 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.",

keywords = "Amyotrophic lateral sclerosis, CHCHD10, Familial, Sporadic, Amyotrophic lateral sclerosis, CHCHD10, Familial, Sporadic",

author = "Mario Sabatelli and Marcella Zollino and Giuseppe Marangi and Amelia Conte and Marco Luigetti and Serena Lattante and Adriano Chi{\`o} and Gabriele Mora and Claudia Caponnetto and Traynor, {Bryan J.} and Johnson, {Janel O.} and Nalls, {Mike A.} and Andrea Calvo and Cristina Moglia and Giuseppe Borghero and Monsurr{\`o}, {Maria Rosaria} and {La Bella}, Vincenzo and Paolo Volanti and Isabella Simone and Fabrizio Salvi and Logullo, {Francesco O.} and Riva Nilo and Stefania Battistini and Jessica Mandrioli and Raffaella Tanel and Murru, {Maria Rita} and Paola Mandich and Conforti, {Francesca L.} and Maura Brunetti and Marco Barberis and Gabriella Restagno and Silvana Penco and Christian Lunetta and Fabio Giannini and Claudia Ricci and Gianluigi Mancardi and Ilaria Bartolomei and Massimo Corbo and Irene Ossola and Giancarlo Logroscino and Gioacchino Tedeschi and Maura Pugliatti and Pinter, {Giuseppe Lauria} and Shannon Glynn and Gibbs, {J. Raphael} and Stefania Cammarosano and Antonio Canosa and Umberto Manera and Davide Bertuzzo and Altonio Ilardi and Kalliopi Marinou and Riccardo Sideri and Fabrizio Pisano and Rossella Spataro and Tiziana Colletti and Gianluca Floris and Antonino Cannas and Valeria Piras and Francesco Marrosu and Marrosu, {Maria Giovanna} and Parish, {Leslie D.} and Anna Ticca and Angelo Pirisi and Enzo Ortu and Cau, {Tea B.} and Daniela Loi and Sebastiano Traccis and Nicola Fini and Eleni Georgoulopoulou and Federico Casale and Giuseppe Marrali and Giuseppe Fuda and Paolina Solamone and Eleonora Maestri and Rosalucia Mazzei and Viviana Cristillo and Roberta Puddu and Emanuela Costantino and Carla Pani and Carla Caredda and Paola Origone and Lorena Mosca and Margherita Capasso and Mara Turri and Antonio Petrucci and Luico Tremolizzo and Marialaura Santarelli",

year = "2015",

doi = "10.1016/j.neurobiolaging.2015.01.017",

language = "English",

volume = "36",

pages = "1767.e3--1767.e3--6",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "[New York, NY] : Elsevier, 1980-",

}

Sabatelli, M , Zollino, M , Marangi, G, Conte, A, Luigetti, M, Lattante, S, Chiò, A, Mora, G, Caponnetto, C, Traynor, BJ, Johnson, JO, Nalls, MA, Calvo, A, Moglia, C, Borghero, G, Monsurrò, MR, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, FO, Nilo, R, Battistini, S, Mandrioli, J, Tanel, R, Murru, MR, Mandich, P, Conforti, FL, Brunetti, M, Barberis, M, Restagno, G, Penco, S, Lunetta, C, Giannini, F, Ricci, C, Mancardi, G, Bartolomei, I, Corbo, M, Ossola, I, Logroscino, G, Tedeschi, G, Pugliatti, M, Pinter, GL, Glynn, S, Gibbs, JR, Cammarosano, S, Canosa, A, Manera, U, Bertuzzo, D, Ilardi, A, Marinou, K, Sideri, R, Pisano, F, Spataro, R, Colletti, T, Floris, G, Cannas, A, Piras, V, Marrosu, F, Marrosu, MG, Parish, LD, Ticca, A, Pirisi, A, Ortu, E, Cau, TB, Loi, D, Traccis, S, Fini, N, Georgoulopoulou, E, Casale, F, Marrali, G, Fuda, G, Solamone, P, Maestri, E, Mazzei, R, Cristillo, V, Puddu, R, Costantino, E, Pani, C, Caredda, C, Origone, P, Mosca, L, Capasso, M, Turri, M, Petrucci, A, Tremolizzo, L & Santarelli, M 2015, 'CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients', Neurobiology of Aging, vol. 36, pagg. 1767.e3-1767.e3-6. https://doi.org/10.1016/j.neurobiolaging.2015.01.017

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients. / Sabatelli, Mario ; Zollino, Marcella ; Marangi, Giuseppe; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Chiò, Adriano; Mora, Gabriele; Caponnetto, Claudia; Traynor, Bryan J.; Johnson, Janel O.; Nalls, Mike A.; Calvo, Andrea; Moglia, Cristina; Borghero, Giuseppe; Monsurrò, Maria Rosaria; La Bella, Vincenzo; Volanti, Paolo; Simone, Isabella; Salvi, Fabrizio; Logullo, Francesco O.; Nilo, Riva; Battistini, Stefania; Mandrioli, Jessica; Tanel, Raffaella; Murru, Maria Rita; Mandich, Paola; Conforti, Francesca L.; Brunetti, Maura; Barberis, Marco; Restagno, Gabriella; Penco, Silvana; Lunetta, Christian; Giannini, Fabio; Ricci, Claudia; Mancardi, Gianluigi; Bartolomei, Ilaria; Corbo, Massimo; Ossola, Irene; Logroscino, Giancarlo; Tedeschi, Gioacchino; Pugliatti, Maura; Pinter, Giuseppe Lauria; Glynn, Shannon; Gibbs, J. Raphael; Cammarosano, Stefania; Canosa, Antonio; Manera, Umberto; Bertuzzo, Davide; Ilardi, Altonio; Marinou, Kalliopi; Sideri, Riccardo; Pisano, Fabrizio; Spataro, Rossella; Colletti, Tiziana; Floris, Gianluca; Cannas, Antonino; Piras, Valeria; Marrosu, Francesco; Marrosu, Maria Giovanna; Parish, Leslie D.; Ticca, Anna; Pirisi, Angelo; Ortu, Enzo; Cau, Tea B.; Loi, Daniela; Traccis, Sebastiano; Fini, Nicola; Georgoulopoulou, Eleni; Casale, Federico; Marrali, Giuseppe; Fuda, Giuseppe; Solamone, Paolina; Maestri, Eleonora; Mazzei, Rosalucia; Cristillo, Viviana; Puddu, Roberta; Costantino, Emanuela; Pani, Carla; Caredda, Carla; Origone, Paola; Mosca, Lorena; Capasso, Margherita; Turri, Mara; Petrucci, Antonio; Tremolizzo, Luico; Santarelli, Marialaura.

In: Neurobiology of Aging, Vol. 36, 2015, pag. 1767.e3-1767.e3-6.

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

TY - JOUR

T1 - CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

AU - Sabatelli, Mario

AU - Zollino, Marcella

AU - Marangi, Giuseppe

AU - Conte, Amelia

AU - Luigetti, Marco

AU - Lattante, Serena

AU - Chiò, Adriano

AU - Mora, Gabriele

AU - Caponnetto, Claudia

AU - Traynor, Bryan J.

AU - Johnson, Janel O.

AU - Nalls, Mike A.

AU - Calvo, Andrea

AU - Moglia, Cristina

AU - Borghero, Giuseppe

AU - Monsurrò, Maria Rosaria

AU - La Bella, Vincenzo

AU - Volanti, Paolo

AU - Simone, Isabella

AU - Salvi, Fabrizio

AU - Logullo, Francesco O.

AU - Nilo, Riva

AU - Battistini, Stefania

AU - Mandrioli, Jessica

AU - Tanel, Raffaella

AU - Murru, Maria Rita

AU - Mandich, Paola

AU - Conforti, Francesca L.

AU - Brunetti, Maura

AU - Barberis, Marco

AU - Restagno, Gabriella

AU - Penco, Silvana

AU - Lunetta, Christian

AU - Giannini, Fabio

AU - Ricci, Claudia

AU - Mancardi, Gianluigi

AU - Bartolomei, Ilaria

AU - Corbo, Massimo

AU - Ossola, Irene

AU - Logroscino, Giancarlo

AU - Tedeschi, Gioacchino

AU - Pugliatti, Maura

AU - Pinter, Giuseppe Lauria

AU - Glynn, Shannon

AU - Gibbs, J. Raphael

AU - Cammarosano, Stefania

AU - Canosa, Antonio

AU - Manera, Umberto

AU - Bertuzzo, Davide

AU - Ilardi, Altonio

AU - Marinou, Kalliopi

AU - Sideri, Riccardo

AU - Pisano, Fabrizio

AU - Spataro, Rossella

AU - Colletti, Tiziana

AU - Floris, Gianluca

AU - Cannas, Antonino

AU - Piras, Valeria

AU - Marrosu, Francesco

AU - Marrosu, Maria Giovanna

AU - Parish, Leslie D.

AU - Ticca, Anna

AU - Pirisi, Angelo

AU - Ortu, Enzo

AU - Cau, Tea B.

AU - Loi, Daniela

AU - Traccis, Sebastiano

AU - Fini, Nicola

AU - Georgoulopoulou, Eleni

AU - Casale, Federico

AU - Marrali, Giuseppe

AU - Fuda, Giuseppe

AU - Solamone, Paolina

AU - Maestri, Eleonora

AU - Mazzei, Rosalucia

AU - Cristillo, Viviana

AU - Puddu, Roberta

AU - Costantino, Emanuela

AU - Pani, Carla

AU - Caredda, Carla

AU - Origone, Paola

AU - Mosca, Lorena

AU - Capasso, Margherita

AU - Turri, Mara

AU - Petrucci, Antonio

AU - Tremolizzo, Luico

AU - Santarelli, Marialaura

PY - 2015

Y1 - 2015

N2 - 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 ∼ 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.

AB - 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 ∼ 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.

KW - Amyotrophic lateral sclerosis

KW - CHCHD10

KW - Familial

KW - Sporadic

KW - Amyotrophic lateral sclerosis

KW - CHCHD10

KW - Familial

KW - Sporadic

UR - http://hdl.handle.net/10807/71791

U2 - 10.1016/j.neurobiolaging.2015.01.017

DO - 10.1016/j.neurobiolaging.2015.01.017

M3 - Article

VL - 36

SP - 1767.e3-1767.e3-6

JO - Neurobiology of Aging

JF - Neurobiology of Aging

SN - 0197-4580

ER -