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

Adriano Chiò, Gabriele Mora, Mario Sabatelli, 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 TanelMaria Rita Murru, Paola Mandich, Marcella Zollino, Francesca L. Conforti, Maura Brunetti, Marco Barberis, Gabriella Restagno, Silvana Penco, Christian Lunetta, Fabio Giannini, Claudia Ricci, Gianluigi Mancardi, Ilaria Bartolomei, Massimo Corbo, Amelia Conte, Marco Luigetti, Serena Lattante, Giuseppe Marangi, Irene Ossola, Giancarlo Logroscino, Gioacchino Tedeschi, Maura Pugliatti, Giuseppe Lauria Pinter, Shannon Glynn, J. Raphael Gibbs, Stefania Cammarosano, Antonio Canosa, Kalliopi Marinou, Riccardo Sideri, Fabrizio Pisano, ITALSGEN Consortium

Research output: Contribution to journalArticlepeer-review


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.e3-1767.e6
JournalNeurobiology of Aging
Issue number4
Publication statusPublished - Apr 1 2015


  • Amyotrophic lateral sclerosis
  • CHCHD10
  • Familial
  • Sporadic

ASJC Scopus subject areas

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


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