Another mutation in the gene: the first Turkish patient with -His47Arg, a case report.

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 gene are the second most frequent causative factor of genetics-based ALS worldwide, after hexanucleotide repeat expansion. The occurrence of pathogenic mutations in ALS-associated genes and its effect on disease progression have been studied previously, especially in the gene. Recent studies have shown that a very small portion of cases occurred . Here, we present the first case of the His47Arg mutation in a young female patient with mild symptoms and, currently, a slow progression for 7 years.