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C9ORF72 repeat expansion not detected in patients with multiple sclerosis
Chiara Fenoglio1, Milena De Riz1, Chiara Villa1
1Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Abstract:
A hexanucleotide repeat expansion in the chromosome 9 Open Reading Frame 72 gene (C9ORF72) has recently been reported to be cause of familial amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Nevertheless, in the last few years this mutation has been found to be associated with heterogeneous phenotypes, including multiple sclerosis (MS) in concurrence with amyotrophic lateral sclerosis. In this study, we sought to evaluate the presence of the C9ORF72 repeat expansion in a cohort consisting of 314 patients with MS and 222 control subjects. No pathogenic expansion was found in MS and control populations, suggesting that C9ORF72 does not play a major role in MS pathogenesis.
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