title: [From gene to disease: amyotrophic lateral sclerosis].
abstract: Amyotrophic lateral sclerosis is a progressive neurological disorder. It is characterised by selective motor-neuron degeneration in the cortex, brainstem, and spinal cord. Consequently, patients suffer from muscle weakness and usually die within 3-5 years after diagnosis from respiratory insufficiency. About 5-10% of the patients have a family history of ALS, the remaining are classified as sporadic ALS. There is only limited information about genetic susceptibility factors in sporadic ALS. Some patients with familial ALS have mutations in the gene encoding for copper/zinc superoxide dismutase, a protein involved in scavenging superoxide radicals. This results in a toxic gain of function. Mutations in the gene coding for alsin, ALS2, have been shown to be responsible for an autosomal recessive form of juvenile ALS.
authors.affiliation: Universitair Medisch Centrum Utrecht, afd. Neurologie, Heidelberglaan 100, 3584 CX Utrecht.
authors.forename: P W J
authors.initials: PW
authors.lastname: van Vught
authors.forename: J H
authors.initials: JH
authors.lastname: Veldink
authors.forename: F
authors.initials: F
authors.lastname: Baas
authors.forename: F L
authors.initials: FL
authors.lastname: van Muiswinkel
authors.forename: L H
authors.initials: LH
authors.lastname: van den Berg
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D018384:Oxidative Stress; D012131:Respiratory Insufficiency / Q000209:etiology / Q000401:mortality; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase