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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.
Footnotes
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See page 807
Supplemental data at www.neurology.org
e-Pub ahead of print on July 21, 2010, at www.neurology.org.
*These authors contributed equally to this work.
Study funding: Supported by the German Federal Ministry of Education and Research (01GI0704).
Disclosure: Author disclosures are provided at the end of the article.
Received January 22, 2010. Accepted in final form May 18, 2010.
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