Ontology highlight
ABSTRACT:
SUBMITTER: Vance C
PROVIDER: S-EPMC4516382 | biostudies-literature | 2009 Feb
REPOSITORIES: biostudies-literature
Vance Caroline C Rogelj Boris B Hortobágyi Tibor T De Vos Kurt J KJ Nishimura Agnes Lumi AL Sreedharan Jemeen J Hu Xun X Smith Bradley B Ruddy Deborah D Wright Paul P Ganesalingam Jeban J Williams Kelly L KL Tripathi Vineeta V Al-Saraj Safa S Al-Chalabi Ammar A Leigh P Nigel PN Blair Ian P IP Nicholson Garth G de Belleroche Jackie J Gallo Jean-Marc JM Miller Christopher C CC Shaw Christopher E CE
Science (New York, N.Y.) 20090201 5918
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is familial in 10% of cases. We have identified a missense mutation in the gene encoding fused in sarcoma (FUS) in a British kindred, linked to ALS6. In a survey of 197 familial ALS index cases, we identified two further missense mutations in eight families. Postmortem analysis of three cases with FUS mutations showed FUS-immunoreactive cytoplasmic inclusions and predominantly lower motor neuron degeneration. Cellular ...[more]