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

MJ Greenway, PM Anderson, C Russ, S Ennis, S Cashman, C Donaghy, V Patterson, R Swingler, D Kieran, J Prehn, Karen Morrison, A Green, KR Acharya, RH Brown Jr, O Hardiman

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    519 Citations (Scopus)

    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.
    Original languageEnglish
    Pages (from-to)411-413
    Number of pages3
    JournalNature Genetics
    Volume38
    Issue number4
    DOIs
    Publication statusPublished - 26 Feb 2006

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