ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis


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.

DOI: 10.1038/ng1742
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@article{Greenway2006ANGMS, title={ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis}, author={Matthew J. Greenway and Peter Munch Andersen and Carsten Russ and Sean Ennis and Susan M. Cashman and Colette G Donaghy and Victor Patterson and Robert J. Swingler and Dair{\'i}n Kieran and Jochen H. M. Prehn and Karen E. Morrison and Andrew J. Green and K. Ravi Acharya and Robert H. Brown and Orla Hardiman}, journal={Nature Genetics}, year={2006}, volume={38}, pages={411-413} }