Article
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
Human molecular genetics - 1 Dec 1998
Al-Chalabi A, Andersen P M, Chioza B, Shaw C, Sham P C, Robberecht W, Matthijs G, Camu W, Marklund S L, Forsgren L, Rouleau G, Laing N G, Hurse P V, Siddique T, Leigh P N, Powell J F
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase ( SOD1 ), which catalyses the dismutation of the superoxide radical to hydrogen peroxide and oxygen. Experimental evidence suggests mutations act by a toxic...
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