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

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

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36 Citations (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.
Original languageEnglish
Pages (from-to)1767-1767.e6
Number of pages3
JournalNeurobiology of Aging
Volume36
Publication statusPublished - 2015

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)
  • Ageing
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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    Colletti, T., Cammarosano, S., La Bella, V., Mancardi, G., Marrosu, F., Tanel, R., Canosa, A., Marinou, K., Gibbs, J. R., Moglia, C., Piras, V., Barberis, M., Nilo, R., Bartolomei, I., Marangi, G., Cammarosano, S., Ilardi, A., Pinter, G. L., Luigetti, M., ... Petrucci, A. (2015). CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients. Neurobiology of Aging, 36, 1767-1767.e6.