1. FUS mutations in sporadic amyotrophic lateral sclerosis.
- Author
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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, and Traynor BJ
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Child, DNA Mutational Analysis methods, Exons genetics, Female, Genotype, Humans, Italy, Male, Middle Aged, United States, Young Adult, Amyotrophic Lateral Sclerosis genetics, Mutation genetics, RNA-Binding Protein FUS genetics
- 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., (Copyright © 2010 Elsevier Inc. All rights reserved.)
- Published
- 2011
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