title: Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis.
abstract: Mutations of the copper/zinc superoxide dismutase (SOD-1) gene are present in around 20% of patients with a family history of amyotrophic lateral sclerosis. The finding of these mutations in patients with sporadic amyotrophic lateral sclerosis is rare. We describe a family with amyotrophic lateral sclerosis associated with the SOD-1 mutation Asp 101 Asn. This mutation was previously described as occurring in a patient with sporadic disease. We discuss the difficulties in defining truly sporadic amyotrophic lateral sclerosis, and the consequent implications on the neurogenetic advice given to other family members.
authors.affiliation: Department of Biochemistry, Charing Cross and Westminister Medical School, London, England.
authors.forename: R W
authors.initials: RW
authors.lastname: Orrell
authors.forename: J
authors.initials: J
authors.lastname: Habgood
authors.forename: P
authors.initials: P
authors.lastname: Rudge
authors.forename: R J
authors.initials: RJ
authors.lastname: Lane
authors.forename: J S
authors.initials: JS
authors.lastname: de Belleroche
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001483:Base Sequence; D017931:DNA Primers; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D013482:Superoxide Dismutase / Q000235:genetics
chemical_list: D017931:DNA Primers; D013482:Superoxide Dismutase