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 rivistaArticolo in rivistapeer 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 originaleEnglish
pagine (da-a)1767.e3-1767.e3-6
RivistaNeurobiology of Aging
Volume36
DOI
Stato di pubblicazionePubblicato - 2015

Keywords

  • Amyotrophic lateral sclerosis
  • CHCHD10
  • Familial
  • Sporadic

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