No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS

W J Broom, M J Parton, Caroline Vance, C Russ, P M Andersen, V Hansen, P N Leigh, J F Powell, A Al-Chalabi, C E Shaw

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12 Citations (Scopus)

Abstract

Mutations in the copper zinc superoxide dismutase gene (SOD1) are found in 20% of familial and 3% of sporadic ALS patients. SOD1 protein aggregation can be detected in motor neurons of mutation-negative sporadic cases but a pathogenic role for wild-type SOD1 in ALS has not been demonstrated. In this study of 233 ALS cases and 248 controls the authors found no significant association between four individual single nucleotide polymorphisms and a deletion spanning the SOD1 locus (or their combined haplotypes), and disease susceptibility, or phenotype.
Original languageEnglish
Pages (from-to)2419 - 2422
Number of pages4
JournalNeurology
Volume63
Issue number12
Publication statusPublished - 28 Dec 2004

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