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. 2011 Mar;32(3):550.e1-4.
doi: 10.1016/j.neurobiolaging.2009.12.020. Epub 2010 Feb 6.

FUS mutations in sporadic amyotrophic lateral sclerosis

Shiao-Lin Lai  1 , 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, Fabrizio Salvi, Ilaria Bartolomei, Federica Lombardo; ITALSGEN Consortium; Gabriele Mora, Gabriella Restagno, Adriano Chiò, Bryan J Traynor
Collaborators, Affiliations

FUS mutations in sporadic amyotrophic lateral sclerosis

Shiao-Lin Lai et al. Neurobiol Aging. 2011 Mar.

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.

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Figures

Figure 1
Figure 1. Distribution of FUS mutations detected in sporadic ALS patients*
*Fifteen exons of FUS are numbered. Novel mutations are indicated in red, whereas previously described mutations are in black. RRM, RNA-recognition motif; ZNF-RBZ, zinc finger-RNA binding zone.
See this image and copyright information in PMC

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