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Novel missense and truncating mutations in FUS/TLS in familial ALS


Waibel, S; Neumann, M; Rabe, M; Meyer, T; Ludolph, A C (2010). Novel missense and truncating mutations in FUS/TLS in familial ALS. Neurology, 75(9):815-817.

Abstract

BACKGROUND: Mutations in the FUS/TLS gene have been associated with familial amyotrophic lateral sclerosis (FALS).

METHODS: We analyzed the presence and frequency of C-terminal FUS/TLS mutations in a German amyotrophic lateral sclerosis (ALS) cohort, including 133 patients with sporadic ALS (SALS) and 58 patients with FALS by sequence analysis of exons 13-15.

RESULTS: We identified 2 novel heterozygous FUS/TLS mutations in 4 German ALS families including the novel missense mutation K510R and the truncating mutation R495X. The truncating mutation was associated with an aggressive disease course whereas the K510R mutation showed a mild phenotype with disease duration ranging from 6 to 8 years. No mutation was detected in 133 patients with SALS.

CONCLUSIONS: Mutations in FUS/TLS account for 7% (4 of 58) of FALS in our German cohort.

BACKGROUND: Mutations in the FUS/TLS gene have been associated with familial amyotrophic lateral sclerosis (FALS).

METHODS: We analyzed the presence and frequency of C-terminal FUS/TLS mutations in a German amyotrophic lateral sclerosis (ALS) cohort, including 133 patients with sporadic ALS (SALS) and 58 patients with FALS by sequence analysis of exons 13-15.

RESULTS: We identified 2 novel heterozygous FUS/TLS mutations in 4 German ALS families including the novel missense mutation K510R and the truncating mutation R495X. The truncating mutation was associated with an aggressive disease course whereas the K510R mutation showed a mild phenotype with disease duration ranging from 6 to 8 years. No mutation was detected in 133 patients with SALS.

CONCLUSIONS: Mutations in FUS/TLS account for 7% (4 of 58) of FALS in our German cohort.

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31 citations in Web of Science®
36 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:2010
Deposited On:11 Feb 2011 14:17
Last Modified:05 Apr 2016 14:43
Publisher:American Academy of Neurology
ISSN:0028-3878
Publisher DOI:10.1212/WNL.0b013e3181f07e26
PubMed ID:20660363
Permanent URL: http://doi.org/10.5167/uzh-44605

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