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

From the Departments of Neurology (Drs. Broom, Parton, Leigh, Al-Chalabi, and Shaw, and C.A. Vance and V. Hansen) and Neuroscience (Drs. Russ and Powell), Institute of Psychiatry, De Crespigny Park, London, UK; Department of Neurology (Dr. Andersen), Umea University, Sweden; and Department of Medical and Molecular Genetics (Dr. Shaw), Guy’s, King’s & St. Thomas’s School of Medicine, London, UK.

Address correspondence and reprint requests to Dr. Christopher E. Shaw, Department of Medical and Molecular Genetics, Guy’s, King’s & St. Thomas’s School of Medicine, London SE1 9RT, UK; e-mail: chris.shaw{at}iop.kcl.ac.uk

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.

Received March 24, 2004. Accepted in final form August 4, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 28 issue to find the title link for this article.

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