C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.

@article{Sabatelli2012C9ORF72HR,
  title={C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.},
  author={Mario Sabatelli and Francesca Luisa Conforti and Marcella Zollino and Gabriele Mora and Maria Rosaria Monsurr{\`o} and Paolo Volanti and Kalliopi Marinou and Fabrizio Salvi and Massimo Corbo and Fabio Giannini and Stefania Battistini and Silvana Penco and Christian Lunetta and Aldo Quattrone and Antonio Gambardella and Giancarlo Logroscino and Isabella Laura Simone and Ilaria Bartolomei and Fabrizio Pisano and Gioacchino Tedeschi and Amelia Conte and Rossella Spataro and Vincenzo La Bella and Claudia Caponnetto and Gianluigi Mancardi and Paola Mandich and Patrizia Sola and Jessica Mandrioli and Alan E. Renton and Elisa Majounie and Yevgeniya A Abramzon and Francesco Marrosu and Maria Giovanna Marrosu and Maria Rita Murru and Maria Alessandra Sotgiu and Maura Pugliatti and Carmelo Rodolico and Cristina Moglia and Andrea Calvo and Irene Ossola and Maura Brunetti and Bryan J. Traynor and Giuseppe Borghero and Gabriella Restagno and Adriano Chi{\`o}},
  journal={Neurobiology of aging},
  year={2012},
  volume={33 8},
  pages={1848.e15-20}
}
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… CONTINUE READING

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