Novel missense and truncating mutations in FUS/TLS in familial ALS - PubMed (original) (raw)

Comparative Study

. 2010 Aug 31;75(9):815-7.

doi: 10.1212/WNL.0b013e3181f07e26. Epub 2010 Jul 21.

Affiliations

• PMID: 20660363
• DOI: 10.1212/WNL.0b013e3181f07e26

Comparative Study

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

S Waibel et al. Neurology. 2010.

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.

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