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- Title
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
- Authors
Greenway, Matthew J.; Andersen, Peter M.; Russ, Carsten; Ennis, Sean; Cashman, Susan; Donaghy, Colette; Patterson, Victor; Swingler, Robert; Kieran, Dairin; Prehn, Jochen; Morrison, Karen E.; Green, Andrew; Acharya, K. Ravi; Brown Jr., Robert H.; Hardiman, Orla
- Abstract
We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. We now report the finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS. Our findings provide further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration.
- Subjects
AMYOTROPHIC lateral sclerosis; MOTOR neuron diseases; NEURODEGENERATION; MOTOR neurons; CEREBRAL anoxia; GENES
- Publication
Nature Genetics, 2006, Vol 38, Issue 4, p411
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1742