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

Umeå University, Umeå, Västerbotten, Sweden
Nature Genetics (Impact Factor: 29.65). 05/2006; 38(4):411-3. DOI: 10.1038/ng1742
Source: PubMed

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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