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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 Robert H  Hardiman Orla
Institution:Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland. mattgreenway@rcsi.ie
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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