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, Leuven, Belgium. wim.robberecht@uz.kuleuven.ac.be
D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D009154:Mutation / Q000502:physiology; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1