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Mutations in the gene encoding cytosolic Cu,Zn superoxide dismutase (SOD1)1 account for 20% of cases of familial amyotrophic lateral sclerosis (ALS), which account for 5 to 10% of all cases of ALS. With one exception,2 they are inherited in an autosomal dominant fashion. Of the over 100 mutations identified, one in particular—an alanine-to-valine substitution in codon 4 (A4V)—accounts for 50% of cases of SOD1-related familial ALS in the United States. This mutation causes a rapidly progressive form of pure lower motor neuron ALS with a median survival of 1 year from onset,3 compared to 3 years for patients with sporadic ALS. The mutation is rare in Europe. Understanding why the frequency of A4V SOD1 mutations is different on the two continents might provide clues as to how familial ALS originates and spreads within populations. One reason may be the age of the mutation, or the founder effect. A mutation that occurred earlier may be more prevalent because it had time to spread before the occurrence or introduction of other mutations. Alternatively, a particular mutation may confer survival advantage in one locale but not in another.
In this …
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