Genetics of amyotrophic lateral sclerosis.
The genetic cause of amyotrophic lateral sclerosis (ALS) is known in a minority of cases. Mutations in SOD1, the gene encoding a superoxide dismutase on chromosome 21, are indeed found in 20% of familial ALS patients, who constitute only 5 or 10% of all ALS patients. In rare cases, a mutation in NFH, the gene encoding the heavy subunit of neurofilament, is present. Familial ALS has been linked to other loci but the genes involved remain to be identified. A genetic component is also thought to at least contribute to the pathogenesis of sporadic ALS. Their identification is now possible thanks to progress in molecular genetics.
Robberecht
W
W
Dept. Neurology, University Hospital Gasthuisberg, University of Leuven, Herestraat 49 3000 Leuven, Belgium. wim.robberecht@uz.kuleuven.ac.be
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D006801:Humans; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1
D001057:Apolipoproteins E; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1