C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.

Mario Sabatelli, Francesca Luisa Conforti, Marcella Zollino, Gabriele Mora, Maria Rosaria Monsurrò, Paolo Volanti, Kalliopi Marinou, Fabrizio Salvi, Massimo Corbo, Fabio Giannini, Stefania Battistini, Silvana Penco, Christian Lunetta, Aldo Quattrone, Antonio Gambardella, Giancarlo Logroscino, Isabella Simone, Ilaria Bartolomei, Fabrizio Pisano, Gioacchino TedeschiAmelia Conte, Rossella Spataro, Vincenzo La Bella, Claudia Caponnetto, Gianluigi Mancardi, Paola Mandich, Patrizia Sola, Jessica Mandrioli, Alan E. Renton, Elisa Majounie, Yevgeniya Abramzon, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Maria Alessandra Sotgiu, Maura Pugliatti, Carmelo Rodolico, Consortium ITALSGEN Consortium, Cristina Moglia, Andrea Calvo, Irene Ossola, Maura Brunetti, Bryan J. Traynor, Giuseppe Borghero, Gabriella Restagno, Adriano Chiò

Research output: Contribution to journalArticlepeer-review


It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from mainland Italy. Sixty (3.7%) of 1624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally matched control samples (1238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified dementia was also detected in 19 pedigrees (27.5%) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived 1 year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucleotide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the most common mutation in Italy and the second most common in Sardinia.

Original languageEnglish
JournalNeurobiology of Aging
Issue number8
Publication statusPublished - Aug 2012

ASJC Scopus subject areas

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

Fingerprint Dive into the research topics of 'C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.'. Together they form a unique fingerprint.

Cite this