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Eur J Neurol. 2010 May;17(5):754-6. doi: 10.1111/j.1468-1331.2009.02859.x. Epub 2009 Nov 13.

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

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1
Department of Neurology, Leuven University Hospital, Herestraat 49, 3000 Leuven, Belgium. philip.vandamme@uz.kuleuven.be

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.

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