Journal
EUROPEAN JOURNAL OF NEUROLOGY
Volume 17, Issue 5, Pages 754-756Publisher
WILEY-BLACKWELL
DOI: 10.1111/j.1468-1331.2009.02859.x
Keywords
amyotrophic lateral sclerosis; familial; FUS
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Funding
- E von Behring Chair for Neuromuscular and Neurodegenerative Disorders
- Belgian Federal Science Policy Office [P6/43]
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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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