Rapid disease progression correlates with instability of mutant SOD1 in familial ALS.
cross_sectional · Level IV
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Abstract
Studies on the clinical course of familial ALS suggest that the duration of illness is relatively consistent for each mutation but variable among the different mutations. The authors analyzed the relative amount of mutant compared with normal SOD1 protein in the erythrocytes from 29 patients with ALS with 22 different mutations. Turnover of mutant SOD1 correlated with a shorter disease survival time.
Medical subject headings
- Amyotrophic Lateral Sclerosis
- Genetic Predisposition to Disease
- Mutation
- Superoxide Dismutase