AUTHOR=Bayraktar Elif , Çiftçi Vildan , Uysal Hilmi , Başak A. Nazlı 

TITLE=Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report

JOURNAL=Frontiers in Genetics

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1208673

DOI=10.3389/fgene.2023.1208673

ISSN=1664-8021

ABSTRACT=<p>Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease of motor neurons. Most ALS cases are considered sporadic due to the presence of a combination of environmental and complex genetic risk factors, while approximately 10% of cases have a family history. Pathogenic variants in the <italic>SOD1</italic> gene are the second most frequent causative factor of genetics-based ALS worldwide, after <italic>C9ORF72</italic> hexanucleotide repeat expansion. The <italic>De novo</italic> occurrence of pathogenic mutations in ALS-associated genes and its effect on disease progression have been studied previously, especially in the <italic>FUS</italic> gene. Recent studies have shown that a very small portion of <italic>SOD1</italic> cases occurred <italic>de novo</italic>. Here, we present the first <italic>de novo</italic> case of the <italic>SOD1</italic> His47Arg mutation in a young female patient with mild symptoms and, currently, a slow progression for 7 years.</p>