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

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.

journal_name

Eur J Neurol

authors

Damme PV,Goris A,Race V,Hersmus N,Dubois B,Bosch LV,Matthijs G,Robberecht W

doi

10.1111/j.1468-1331.2009.02859.x

subject

Has Abstract

pub_date

2010-05-01 00:00:00

pages

754-6

issue

5

eissn

1351-5101

issn

1468-1331

pii

ENE2859

journal_volume

17

pub_type

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