title: ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
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.
authors.affiliation: Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland. mattgreenway@rcsi.ie
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Greenway
authors.forename: Peter M
authors.initials: PM
authors.lastname: Andersen
authors.forename: Carsten
authors.initials: C
authors.lastname: Russ
authors.forename: Sean
authors.initials: S
authors.lastname: Ennis
authors.forename: Susan
authors.initials: S
authors.lastname: Cashman
authors.forename: Colette
authors.initials: C
authors.lastname: Donaghy
authors.forename: Victor
authors.initials: V
authors.lastname: Patterson
authors.forename: Robert
authors.initials: R
authors.lastname: Swingler
authors.forename: Dairin
authors.initials: D
authors.lastname: Kieran
authors.forename: Jochen
authors.initials: J
authors.lastname: Prehn
authors.forename: Karen E
authors.initials: KE
authors.lastname: Morrison
authors.forename: Andrew
authors.initials: A
authors.lastname: Green
authors.forename: K Ravi
authors.initials: KR
authors.lastname: Acharya
authors.forename: Robert H
authors.initials: RH
authors.lastname: Brown
authors.forename: Orla
authors.initials: O
authors.lastname: Hardiman
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008958:Models, Molecular; D020125:Mutation, Missense; D010375:Pedigree; D011487:Protein Conformation; D012259:Ribonuclease, Pancreatic / Q000737:chemistry / Q000235:genetics*
chemical_list: C046366:angiogenin; D012259:Ribonuclease, Pancreatic