Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Abstract

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ~40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the… (More)
DOI: 10.1093/brain/awr366

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@article{Chi2012ClinicalCO, title={Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.}, author={Adriano Chi{\`o} and Giuseppe Borghero and Gabriella Restagno and Gabriele Mora and Carsten Drepper and Bryan J. Traynor and Michael Sendtner and Maura Brunetti and Irene Ossola and Andrea Calvo and Maura Pugliatti and Maria Alessandra Sotgiu and Maria Rita Murru and Maria Giovanna Marrosu and Francesco Marrosu and Kalliopi Marinou and Jessica Mandrioli and Patrizia Sola and Claudia Caponnetto and Giovanni Luigi Mancardi and Paola Mandich and V La Bella and Rossella Spataro and Amelia Conte and Maria Rosaria Monsurr{\`o} and Gioacchino Tedeschi and Fabrizio Pisano and Ilaria Bartolomei and Fabrizio Salvi and Giuseppe Lauria Pinter and Isabella Laura Simone and Giancarlo Logroscino and Antonio Gambardella and Aldo Quattrone and Christian Lunetta and Paolo Volanti and Marcella Zollino and Silvana Penco and Stefania Battistini and Alan E.M. Renton and Elisa Majounie and Yevgeniya A Abramzon and Francesca Luisa Conforti and F{\'a}bio Poianas Giannini and Massimo Corbo and Mario Sabatelli}, journal={Brain : a journal of neurology}, year={2012}, volume={135 Pt 3}, pages={784-93} }