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Heterogeneity of pathological processes in amyotrophic lateral sclerosis?
  1. Steve Vucic
  1. Correspondence to Dr S Vucic, Sydney Medical School Westmead, Department of Neurology, Westmead Hospital, Cnr Darcy and Hawkesbury Rd, Wentworthville, Sydney NSW 2145, Australia; s.vucic{at}neura.edu.au

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Mutations in the superoxide dismuate-1 (SOD-1) gene underlie approximately 20% of all familial forms of amyotrophic lateral sclerosis (FALS-1), and to date over 100 different mutations have been reported.1 Although FALS-1 is regarded as clinically and pathologically indistinguishable from sporadic ALS, marked variations in penetrance, age and site of disease onset, rate of disease progression and survival have been reported with different SOD-1 mutations.2 The pathophysiological mechanisms underlying these marked variations in SOD-1 genotype expression remain elusive, and resolution of this could be of therapeutic significance.

In the paper by Blain and colleagues3 (see page 843), diffusion tensor …

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Footnotes

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  • Competing interests SV serves on the scientific advisory board for Novartis, Merck Serono Australia and Bayer Schering Australia. SV serves as a medical consultant for Merck Serono Australia.

  • Provenance and peer review Commissioned; not externally peer reviewed.

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