title: C9ORF72 repeat expansion not detected in patients with multiple sclerosis.
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.
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Milena
authors.initials: M
authors.lastname: De Riz
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Villa
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Serpente
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Ridolfi
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Rossana
authors.initials: R
authors.lastname: Bonsi
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Sara M G
authors.initials: SM
authors.lastname: Cioffi
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Barone
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Pietroboni
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Calvi
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.affiliation: Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, "Dino Ferrari" Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. Electronic address: daniela.galimberti@unimi.it.
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics* / Q000502:physiology
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: C9ORF72 repeat expansion; Multiple sclerosis; Neurodegeneration