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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Age of Onset
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Aged
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Amyotrophic Lateral Sclerosis / genetics*
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Amyotrophic Lateral Sclerosis / metabolism
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Amyotrophic Lateral Sclerosis / physiopathology*
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Central Nervous System / metabolism
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Central Nervous System / pathology
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Central Nervous System / physiopathology
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DNA Mutational Analysis
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Disease Progression
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Female
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Humans
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Male
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Middle Aged
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Motor Neurons / metabolism
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Motor Neurons / pathology
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Mutation / genetics*
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Predictive Value of Tests
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Prognosis
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Superoxide Dismutase / genetics*
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Superoxide Dismutase / metabolism
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Superoxide Dismutase-1
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Survival Rate
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Time Factors
Substances
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SOD1 protein, human
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Superoxide Dismutase
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Superoxide Dismutase-1