title: ALSODatabase: database of SOD1 (and other) gene mutations in ALS on the Internet. European FALS Group and ALSOD Consortium.
abstract: Mutations in the Cu/Zn superoxide dismutase (SOD1) gene account for 20-30% of all familial cases of ALS and for 1-2% of all ALS cases. The exact number of these mutations is, however, unknown, as is the number of individuals worldwide with them who have ALS or are at risk of developing the disease. Information on the genetic and clinical data of ALS patients with the SOD1 gene mutations is, also, only available for one-third of all families and is incomplete in some of those families. Some attempts have been made to correlate the genotype with the phenotype of the patients with SOD1 gene mutations and the available evidence suggests that only a few mutations could be linked to a consistent age of onset or pattern of survival. The ALS scientific community has recognized an urgent need for collecting the genetic and clinical information on all SOD1 individuals and the ALSOD Consortium was set up with the aim of pooling all available data into a uniform centralized database. Recent advances in information technology and the wide accessibility of the Internet have provided an ideal vehicle through which data can not only be recorded but also searched, amended and updated in real time. Here, we describe the work done so far by the ALSOD Consortium and plans for the future.
authors.affiliation: Department of Clinical Neurology, Institute of Psychiatry and Guy's, King's and St Thomas' School of Medicine, London, UK. a.radunovic@iop.kcl.ac.uk
authors.forename: A
authors.initials: A
authors.lastname: Radunović
authors.forename: P N
authors.initials: PN
authors.lastname: Leigh
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics*; D030541:Databases, Genetic; D006801:Humans; D020407:Internet; D009154:Mutation; D012042:Registries; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1