SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 8572658.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Amyotrophic Lateral Sclerosis
- Neurofilament Proteins
- Point Mutation
- Superoxide Dismutase