PMID: 16501576DOI: 10.1038/ng1742Feb 28, 2006Paper
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
Nature Genetics
Matthew J GreenwayOrla Hardiman
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.
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