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The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis
  1. Matthis Synofzik1,
  2. Rubén Fernández-Santiago1,2,
  3. Walter Maetzler1,
  4. Ludger Schöls1,
  5. Peter M Andersen3
  1. 1Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany
  2. 2Graduate School of Cellular and Molecular Neuroscience, International Max Planck Research School, Graduate Training Centre of Neuroscience, Eberhard-Karls; University, Tuebingen, Germany
  3. 3Institute of Clinical Neuroscience, Umeå University, Umeå, Sweden
  1. Correspondence to Dr M Synofzik, Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Hoppe-Seyler-Str 3, University of Tübingen, Tübingen 72076, Germany; matthis.synofzik{at}uni-tuebingen.de

Abstract

Transgenic mouse models of human SOD1 mutations have opened up an area of intense investigation into the pathogenesis of familial and sporadic amyotrophic lateral sclerosis (ALS). However, the human phenotype of the G93A SOD1 mutation—the most commonly studied mutation in rodent models—has remained essentially unknown. This complicates the interpretation and transfer of results from animal models. Here clinical, electrophysiological and genealogical data are presented from a large German pedigree with a G93A mutation in the SOD1 gene. This pedigree shows a highly homogenous phenotype which closely resembles the typical phenotype of sporadic ALS, thus implicating comparable disease pathology of G93A SOD1 ALS and sporadic ALS.

  • Evoked Potentials
  • Genetics
  • Motor Neuron Disease
  • ALS

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was conducted with the approval of the ethics committee of University Hospital Tuebingen, Germany.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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