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

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

JOURNAL=Frontiers in Neurology

VOLUME=13

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.1052341

DOI=10.3389/fneur.2022.1052341

ISSN=1664-2295

ABSTRACT=<p>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. <italic>SOD1</italic> 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 <italic>SOD1</italic> 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 <italic>SOD1</italic> mutation.</p>