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

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

doi:10.3389/fneur.2022.1052341

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

Front Neurol. 2023 Jan 4:13:1052341. doi: 10.3389/fneur.2022.1052341. eCollection 2022.

Authors

Giulia Gianferrari¹, Ilaria Martinelli^{2

3}, Cecilia Simonini¹, Elisabetta Zucchi^{2

4}, Nicola Fini², Serena Carra¹, Cristina Moglia^{5

6}, Jessica Mandrioli^{1

2}

Affiliations

¹ Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
² Department of Neurosciences, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy.
³ Clinical and Experimental PhD Program, University of Modena and Reggio Emilia, Modena, Italy.
⁴ Neurosciences PhD Program, University of Modena and Reggio Emilia, Modena, Italy.
⁵ S.C Neurology 1U, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza Torino, Torino, Italy.
⁶ "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Torino, Italy.

Abstract

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.

Keywords: ALS; case report; genotype-phenotype correlation; motor neuron diseases; p.Glu134del SOD1.

Publication types

Case Reports