Mutations in FUS cause FALS and SALS in French and French Canadian populations

V. V. Belzil, P. N. Valdmanis, P. A. Dion, H. Daoud, E. Kabashi, A. Noreau, J. Gauthier, P. Hince, A. Desjarlais, J. P. Bouchard, L. Lacomblez, F. Salachas, P. F. Pradat, W. Camu, V. Meininger, N. Dupré, G. A. Rouleau

Research output: Contribution to journalArticle

111 Scopus citations

Abstract

BACKGROUND:: The identification of mutations in the TARDBP and more recently the identification of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis (ALS) is providing the field with new insight about the mechanisms involved in this severe neurodegenerative disease. METHODS:: To extend these recent genetic reports, we screened the entire gene in a cohort of 200 patients with ALS. An additional 285 patients with sporadic ALS were screened for variants in exon 15 for which mutations were previously reported. RESULTS:: In total, 3 different mutations were identified in 4 different patients, including 1 3-bp deletion in exon 3 of a patient with sporadic ALS and 2 missense mutations in exon 15 of 1 patient with familial ALS and 2 patients with sporadic ALS. CONCLUSIONS:: Our study identified sporadic patients with mutations in the FUS gene. The accumulation and description of different genes and mutations helps to develop a more comprehensive picture of the genetic events underlying amyotrophic lateral sclerosis. GLOSSARY:

Original languageEnglish (US)
Pages (from-to)1176-1179
Number of pages4
JournalNeurology
Volume73
Issue number15
DOIs
StatePublished - Oct 2009

ASJC Scopus subject areas

  • Clinical Neurology

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    Belzil, V. V., Valdmanis, P. N., Dion, P. A., Daoud, H., Kabashi, E., Noreau, A., Gauthier, J., Hince, P., Desjarlais, A., Bouchard, J. P., Lacomblez, L., Salachas, F., Pradat, P. F., Camu, W., Meininger, V., Dupré, N., & Rouleau, G. A. (2009). Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology, 73(15), 1176-1179. https://doi.org/10.1212/WNL.0b013e3181bbfeef