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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Mutations in FUS cause FALS and SALS in French and French Canadian populations
Neurology, Volume 73, No. 15, Year 2009
Notification
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Description
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: © 2009 by AAN Enterprises, Inc. All rights reserved.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3462471/bin/supp_73_15_1176__index.html
https://efashare.b-cdn.net/share/pmc/articles/PMC3462471/bin/supp_WNL.0b013e3181bbfeef_figure_e-1.doc
https://efashare.b-cdn.net/share/pmc/articles/PMC3462471/bin/supp_WNL.0b013e3181bbfeef_table_e-1.doc
https://efashare.b-cdn.net/share/pmc/articles/PMC3462471/bin/supp_WNL.0b013e3181bbfeef_table_e-2.doc
https://efashare.b-cdn.net/share/pmc/articles/PMC3462471/bin/supp_WNL.0b013e3181bbfeef_table_e-3.doc
Authors & Co-Authors
Dion, Patrick A.
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Daoud, Hussein
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Kabashi, Edor
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Noreau, Anne
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Gauthier, Julie M.
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Bouchard, Jean Pierre
Canada, Quebec
Université Laval
Lacomblez, Lucette
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Salachas, François
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Camu, William
Unknown Affiliation
Dupré, Nicolas
Canada, Quebec
Université Laval
Rouleau, Guy Armand
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Statistics
Citations: 144
Authors: 11
Affiliations: 3
Identifiers
Doi:
10.1212/WNL.0b013e3181bbfeef
ISSN:
00283878
Research Areas
Genetics And Genomics
Health System And Policy
Study Design
Cohort Study