Journal article
Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS
Abstract
Iron misregulation promotes oxidative stress and abnormally high iron levels have been found in the spinal cords of patients with ALS. The authors investigated whether HFE gene polymorphisms, linked to hemochromatosis, are associated with ALS using two independent populations of patients with sporadic ALS and controls (totaling 379 patients and 400 controls). They found that the H63D polymorphism is overrepresented in individuals with sporadic …
Authors
Goodall EF; Greenway MJ; van Marion I; Carroll CB; Hardiman O; Morrison KE
Journal
Neurology, Vol. 65, No. 6, pp. 934–937
Publisher
Wolters Kluwer
Publication Date
September 27, 2005
DOI
10.1212/01.wnl.0000176032.94434.d4
ISSN
0028-3878
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AdultAgedAged, 80 and overAmino Acid SubstitutionAmyotrophic Lateral SclerosisCell DeathDNA Mutational AnalysisFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic TestingHemochromatosis ProteinHistocompatibility Antigens Class IHumansIrelandIronIron Metabolism DisordersMaleMembrane ProteinsMiddle AgedMotor NeuronsMutationNerve DegenerationOxidative StressPolymorphism, GeneticUnited KingdomWhite People