Mutations in all five exons of SOD‐1 may cause ALS

Eight of 38 patients (21%) with familial and 5 of 175 patients (3%) with sporadic amyotrophic lateral sclerosis (ALS) had missense mutations in the SOD‐1 gene. Two novel mutations were identified. One in exon 4 substituting leucine with phenylalanine (L84F) in a familial patient and the second in exon 3 at substituting glycine with serine (G72S) in an “apparently” sporadic patient. Over 60 point mutations have now been described in all five exons of SOD‐1, involving 43 of the 153 residues. Hypotheses about the toxic role of mutant SOD‐1 in the pathogenesis of ALS must account for this molecular diversity.

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