All authors listed in this paper contributed to the experiments and revised the manuscript.
The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS
Article first published online: 18 NOV 2009
© 2009 The Author(s). Journal compilation © 2009 EFNS
European Journal of Neurology
Volume 17, Issue 5, pages 754–756, May 2010
How to Cite
Damme, P. V., Goris, A., Race, V., Hersmus, N., Dubois, B., Bosch, L. V. D., Matthijs, G. and Robberecht, W. (2010), The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS. European Journal of Neurology, 17: 754–756. doi: 10.1111/j.1468-1331.2009.02859.x
- Issue published online: 12 APR 2010
- Article first published online: 18 NOV 2009
- Received 27 July 2009 Accepted 02 October 2009
- amyotrophic lateral sclerosis;
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.