Nature Genetics 38, 411 - 413 (2006)
Published online: 26 February 2006; | doi:10.1038/ng1742
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosisMatthew J Greenway1, 2, Peter M Andersen3, Carsten Russ4, Sean Ennis2, 5, Susan Cashman2, Colette Donaghy6, Victor Patterson6, Robert Swingler7, Dairin Kieran8, Jochen Prehn8, Karen E Morrison9, Andrew Green2, 5, K Ravi Acharya10, Robert H Brown Jr4
& Orla Hardiman1, 111
Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland. 2
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Dublin, Ireland. 3
Department of Neurology, Umeå University, Umeå, Sweden. 4
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Boston, Massachusetts, USA. 5
The Conway Institute, University College Dublin School of Medicine and Medical Science, Ireland. 6
Department of Neurology, Royal Victoria Hospital, Belfast, Northern Ireland. 7
Department of Neurology, Ninewells Hospital, University of Dundee, Dundee, Scotland. 8
Department of Physiology, Royal College of Surgeons in Ireland, Dublin, Ireland. 9
Department of Clinical Neuroscience, University of Birmingham, Birmingham, UK. 10
Department of Biology and Biochemistry, University of Bath, Bath BA2 7AY, England. 11
Department of Neurology, Beaumont Hospital, Dublin, Ireland.
Correspondence should be addressed to Matthew J Greenway mattgreenway@rcsi.ie or Orla Hardiman ohard@iol.ie 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.
MORE ARTICLES LIKE THIS These links to content published by NPG are automatically generated.
|
