title: SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis.
abstract: Mutations in the Cu/Zn superoxide dismutase (SOD1) gene are found in 15 to 20% of patients with familial amyotrophic lateral sclerosis (FALS). Increased levels of neurofilament subunits in transgenic mouse models of ALS also suggests a key role for these proteins in the pathogenesis of the disease. We report the coexistence of an Ile113-->Thr substitution in exon 4 of the SOD1 gene and marked neurofilamentous pathology in the same FALS patient. These observations suggest that two mechanisms, SOD1-induced toxicity and neurofilament disruption, are acting together.
authors.affiliation: Centre for Research in Neuroscience, McGill University, Montreal, Quebec, Canada.
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: A W
authors.initials: AW
authors.lastname: Clark
authors.forename: K
authors.initials: K
authors.lastname: Rooke
authors.forename: A
authors.initials: A
authors.lastname: Pramatarova
authors.forename: A
authors.initials: A
authors.lastname: Krizus
authors.forename: O
authors.initials: O
authors.lastname: Suchowersky
authors.forename: J P
authors.initials: JP
authors.lastname: Julien
authors.forename: D
authors.initials: D
authors.lastname: Figlewicz
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D016900:Neurofilament Proteins / Q000235:genetics*; D017354:Point Mutation; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D016900:Neurofilament Proteins; D013482:Superoxide Dismutase