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.

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

CHIO', Adriano;CALVO, Andrea;MOGLIA, Cristina;Canosa, Antonio;Manera, Umberto;CASALE, Federico;FUDA, Giuseppe;
2015-01-01

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.
2015
36
4
1767
1767.e6
www.elsevier.com/locate/neuaging
Amyotrophic lateral sclerosis; CHCHD10; Familial; Sporadic; Aged; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Frontotemporal Dementia; Genetic Predisposition to Disease; Humans; Italy; Male; Middle Aged; Mitochondrial Proteins; Genetic Association Studies; Mutation; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and Gerontology
Chiò, Adriano; Mora, Gabriele; Sabatelli, Mario; 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; Zollino, Marcella; Conforti, Francesca L.; Brunetti, Maura; Barberis, Marco; Restagno, Gabriella; Penco, Silvana; Lunetta, Christian; Giannini, Fabio; Ricci, Claudia; Mancardi, Gianluigi; Bartolomei, Ilaria; Corbo, Massimo; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; 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
File in questo prodotto:
File Dimensione Formato  
Neurobiol Aging 2015 - Chio - CHCHD10_NIH.pdf

Accesso aperto

Tipo di file: PREPRINT (PRIMA BOZZA)
Dimensione 105.24 kB
Formato Adobe PDF
105.24 kB Adobe PDF Visualizza/Apri
Neurobiol Aging 2015 - Chio - CHCHD10_NIH.pdf

Accesso aperto

Tipo di file: PREPRINT (PRIMA BOZZA)
Dimensione 105.24 kB
Formato Adobe PDF
105.24 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1563258
Citazioni
  • ???jsp.display-item.citation.pmc??? 22
  • Scopus 46
  • ???jsp.display-item.citation.isi??? 35
social impact