FUS mutations in sporadic amyotrophic lateral sclerosis

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

Risultato della ricerca: Articlepeer review

61 Citazioni (Scopus)

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. © 2010 .
Lingua originaleEnglish
pagine (da-a)550.e1-550.e4
Numero di pagine4
RivistaNeurobiology of Aging
Volume32
Stato di pubblicazionePublished - 2011

All Science Journal Classification (ASJC) codes

  • ???subjectarea.asjc.2800.2800???
  • Ageing
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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