Frontiers in Neurology (Jan 2023)

Case report: p.Glu134del SOD1 mutation in two apparently unrelated ALS patients with mirrored phenotype

  • Giulia Gianferrari,
  • Ilaria Martinelli,
  • Ilaria Martinelli,
  • Cecilia Simonini,
  • Elisabetta Zucchi,
  • Elisabetta Zucchi,
  • Nicola Fini,
  • Serena Carra,
  • Cristina Moglia,
  • Cristina Moglia,
  • Jessica Mandrioli,
  • Jessica Mandrioli

DOI
https://doi.org/10.3389/fneur.2022.1052341
Journal volume & issue
Vol. 13

Abstract

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With upcoming personalized approaches based on genetics, it is important to report new mutations in amyotrophic lateral sclerosis (ALS) genes in order to understand their pathogenicity and possible patient responses to specific therapies. SOD1 mutations are the second most frequent genetic cause of ALS in European populations. Here, we describe two seemingly unrelated Italian patients with ALS carrying the same SOD1 heterozygous c.400_402 deletion (p.Glu134del). Both patients had spinal onset in their lower limbs, progressive muscular weakness with respiratory involvement, and sparing bulbar function. In addition to the clinical picture, we discuss the possible pathogenic role of this unfamiliar SOD1 mutation.

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