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

被引：32

作者：

Van Damme, P. ^{[1
,2
,3
]}

Goris, A. ^{[2
]}

Race, V. ^{[4
]}

Hersmus, N. ^{[2
,3
]}

Dubois, B. ^{[1
,2
]}

Van Den Bosch, L. ^{[2
,3
]}

Matthijs, G. ^{[4
]}

Robberecht, W. ^{[1
,2
,3
]}

机构：

[1] Katholieke Univ Leuven, Dept Neurol, Louvain, Belgium

[2] Katholieke Univ Leuven, Dept Expt Neurol, Louvain, Belgium

[3] VIB, Vesalius Res Ctr, Louvain, Belgium

[4] Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diagnost, Louvain, Belgium

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2010年 / 17卷 / 05期

关键词：

amyotrophic lateral sclerosis; familial; FUS; AMYOTROPHIC-LATERAL-SCLEROSIS; GENE;

D O I：

10.1111/j.1468-1331.2009.02859.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：754 / 756

页数：3

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