Journal
NEUROLOGY
Volume 75, Issue 9, Pages 815-817Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0b013e3181f07e26
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Funding
- German Federal Ministry of Education and Research [01GI0704]
- Stavros-Niarchos Foundation
- Synapsis Foundation
- Air Berlin Fonds for ALS Research
- Teva Pharmaceutical Industries Ltd.
- Lundbeck Inc.
- Boehringer Ingelheim
- Sanofi-Aventis
- Ono Pharmaceutical Co. Ltd.
- Santhera Pharmaceuticals
- Knopp Neurosciences Inc.
- Schwarz Pharma
- GlaxoSmithKline
- Bayer Schering Pharma
- Fresenius Medical Care
- Trophos SA
- Takeda Pharmaceutical Company Limited
- Deutsche Forschungsgemeinschaft (DFG)
- Packard Foundation
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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. Neurology (R) 2010;75:815-817
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