FUS mutations in sporadic amyotrophic lateral sclerosis

Shiao Lin Lai, Yevgeniya Abramzon, Jennifer C. Schymick, Dietrich A. Stephan, Travis Dunckley, Allissa Dillman, Mark Cookson, Andrea Calvo, Stefania Battistini, Fabio Giannini, Claudia Caponnetto, Giovanni Luigi Mancardi, Rossella Spataro, Maria Rosaria Monsurro, Gioacchino Tedeschi, Kalliopi Marinou, Mario Sabatelli, Amelia Conte, Jessica Mandrioli, Patrizia SolaFabrizio Salvi, Ilaria Bartolomei, Federica Lombardo, Gabriele Mora, Gabriella Restagno, Adriano Chiò, Bryan J. Traynor

Research output: Contribution to journalArticle

58 Scopus citations

Abstract

Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.

Original languageEnglish (US)
Pages (from-to)550.e1-550.e4
JournalNeurobiology of Aging
Volume32
Issue number3
DOIs
StatePublished - Mar 2011

Keywords

  • Amyotrophic lateral sclerosis
  • FUS
  • Italy
  • Sporadic disease
  • United States of America

ASJC Scopus subject areas

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

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    Lai, S. L., Abramzon, Y., Schymick, J. C., Stephan, D. A., Dunckley, T., Dillman, A., Cookson, M., Calvo, A., Battistini, S., Giannini, F., Caponnetto, C., Mancardi, G. L., Spataro, R., Monsurro, M. R., Tedeschi, G., Marinou, K., Sabatelli, M., Conte, A., Mandrioli, J., ... Traynor, B. J. (2011). FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging, 32(3), 550.e1-550.e4. https://doi.org/10.1016/j.neurobiolaging.2009.12.020