Bayraktar Elif, Çiftçi Vildan, Uysal Hilmi, Başak A Nazlı
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Türkiye.
Department of Medical Biology and Genetics, Akdeniz University, Antalya, Türkiye.
Front Genet. 2023 Aug 25;14:1208673. doi: 10.3389/fgene.2023.1208673. eCollection 2023.
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.
肌萎缩侧索硬化症（ALS）是一种致命的、进行性的运动神经元神经退行性疾病。由于存在环境和复杂遗传风险因素的组合，大多数ALS病例被认为是散发性的，而约10%的病例有家族病史。该基因中的致病性变异是全球基于遗传学的ALS的第二大常见致病因素，仅次于六核苷酸重复扩增。此前已经研究了ALS相关基因中致病突变的发生情况及其对疾病进展的影响，尤其是在该基因中。最近的研究表明，发生的病例比例非常小。在此，我们报告了首例年轻女性患者发生His47Arg突变的病例，其症状较轻，目前病情进展缓慢，已持续7年。
