Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes

@article{Ince1996FamilialAL,
  title={Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes},
  author={Paul G. Ince and Pamela J Shaw and Janet Y. Slade and Cheryl C Jones and Peter Hudgson},
  journal={Acta Neuropathologica},
  year={1996},
  volume={92},
  pages={395-403}
}
Detailed molecular pathology studies and clinicopathological phenotyping of familial amyotrophic lateral sclerosis (FALS) with characterised mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) will yield important insights into the pathogenesis of motor neuron degeneration. An autopsy case is described with the mutation E100G (exon 4) of the SOD1 gene in which full neuropathological examinaton including immunocytochemistry of ubiquitin and neurofilament epitopes was performed. The… CONTINUE READING

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