Title: The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS
Authors: Van Damme, Philip ×
Goris, An
Race, V
Hersmus, N
Dubois, Bénédicte
Van Den Bosch, Ludo
Matthijs, Gert
Robberecht, Wim #
Issue Date: May-2010
Publisher: Rapid Communications
Series Title: European Journal of Neurology vol:17 issue:5 pages:754-756
Abstract: Background and purpose: Mutations in fused in sarcoma (FUS) were recently identified as a cause of familial amyotrophic lateral sclerosis (ALS). The frequency of occurrence of mutations in FUS in sets of patients with familial ALS remains to be established. Methods: We sequenced the FUS gene in a cohort of patients with familial ALS seen at the neuromuscular clinic in Leuven. A total of 28 patients with SOD1-negative ALS from 22 families were analyzed. Results: We identified a R521H mutation in 4 patients, belonging to a kindred of dominantly inherited classical ALS. The mutation segregated with disease. Mutations in FUS were observed in 2.9% of ALS pedigrees in our cohort. Conclusions: These results show that mutations in FUS are also a significant cause of familial ALS in Belgium.
ISSN: 1351-5101
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Department of Human Genetics - miscellaneous
Laboratory for Neuroimmunology
Laboratory for Neurobiology (Vesalius Research Center)
× corresponding author
# (joint) last author

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