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The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS


  • All authors listed in this paper contributed to the experiments and revised the manuscript.

P. Van Damme, Department of Neurology, Leuven University Hospital, Herestraat 49, 3000 Leuven, Belgium (tel.: +32 16 344280; fax: +32 16 344285; e-mail:


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.

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