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 Sola & 7 others Fabrizio Salvi, Ilaria Bartolomei, Federica Lombardo, Gabriele Mora, Gabriella Restagno, Adriano Chiò, Bryan J. Traynor

Research output: Contribution to journalArticle

53 Citations (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.

Original languageEnglish (US)
JournalNeurobiology of Aging
Volume32
Issue number3
DOIs
StatePublished - Mar 1 2011
Externally publishedYes

Fingerprint

Exons
Mutation
Amyotrophic lateral sclerosis 1
Genes

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

Cite this

Lai, S. L., Abramzon, Y., Schymick, J. C., Stephan, D. A., Dunckley, T., Dillman, A., ... Traynor, B. J. (2011). FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging, 32(3). https://doi.org/10.1016/j.neurobiolaging.2009.12.020

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

In: Neurobiology of Aging, Vol. 32, No. 3, 01.03.2011.

Research output: Contribution to journalArticle

Lai, SL, Abramzon, Y, Schymick, JC, Stephan, DA, Dunckley, T, Dillman, A, Cookson, M, Calvo, A, Battistini, S, Giannini, F, Caponnetto, C, Mancardi, GL, Spataro, R, Monsurro, MR, Tedeschi, G, Marinou, K, Sabatelli, M, Conte, A, Mandrioli, J, Sola, P, Salvi, F, Bartolomei, I, Lombardo, F, Mora, G, Restagno, G, Chiò, A & Traynor, BJ 2011, 'FUS mutations in sporadic amyotrophic lateral sclerosis', Neurobiology of Aging, vol. 32, no. 3. https://doi.org/10.1016/j.neurobiolaging.2009.12.020
Lai, Shiao Lin ; Abramzon, Yevgeniya ; Schymick, Jennifer C. ; Stephan, Dietrich A. ; Dunckley, Travis ; Dillman, Allissa ; Cookson, Mark ; Calvo, Andrea ; Battistini, Stefania ; Giannini, Fabio ; Caponnetto, Claudia ; Mancardi, Giovanni Luigi ; Spataro, Rossella ; Monsurro, Maria Rosaria ; Tedeschi, Gioacchino ; Marinou, Kalliopi ; Sabatelli, Mario ; Conte, Amelia ; Mandrioli, Jessica ; Sola, Patrizia ; Salvi, Fabrizio ; Bartolomei, Ilaria ; Lombardo, Federica ; Mora, Gabriele ; Restagno, Gabriella ; Chiò, Adriano ; Traynor, Bryan J. / FUS mutations in sporadic amyotrophic lateral sclerosis. In: Neurobiology of Aging. 2011 ; Vol. 32, No. 3.
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