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What is the clinical significance of SOD1 mutations in amyotrophic lateral sclerosis?
  1. Richard W Orrell
  1. Correspondence to Dr Richard W Orrell, Department of Clinical Neurosciences, UCL Institute of Neurology, Rowland Hill Street, London NW3 2PF, UK; r.orrell{at}ucl.ac.uk

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The identification of patients with amyotrophic lateral sclerosis (ALS) within a single family, some with SOD1 mutation, and some without, complicates the genetic counselling and understanding of ALS.

Mutations in the gene for copper/zinc superoxide dismutase (SOD1) were first identified in patients with familial ALS in 1993.1 Since then, 153 different mutations have been reported. A substantial body of research has developed, in particular around the transgenic mouse models based on these human mutations.2 Despite the potential promise of determining the pathogenesis and treatment of ALS, progress from the clinical point of …

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