C9ORF72 repeat expansion not detected in patients with multiple sclerosis

Chiara Fenoglio, Milena De Riz, Chiara Villa, Maria Serpente, Elisa Ridolfi, Rossana Bonsi, Sara M G Cioffi, Cinzia Barone, Anna Pietroboni, Alberto Calvi, Elio Scarpini, Daniela Galimberti

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
JournalNeurobiology of Aging
Issue number5
Publication statusPublished - May 2014


  • C9ORF72 repeat expansion
  • Multiple sclerosis
  • Neurodegeneration

ASJC Scopus subject areas

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


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