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FUS mutations in sporadic amyotrophic lateral sclerosis

2010; Elsevier BV; Volume: 32; Issue: 3 Linguagem: Inglês

10.1016/j.neurobiolaging.2009.12.020

1558-1497

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

Neurological diseases and metabolism

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.