PDF(Pubmed)
Abstract：
Mutations in the 43 kDa transactive-response (TAR)-DNA-binding protein (TARDBP) are associated with 2-5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. TAR DNA-Binding Protein 43 (TDP-43) is an RNA/DNA-binding protein involved in several cellular mechanisms (e.g., transcription, pre-mRNA processing, and splicing). Many ALS-linked TARDBP mutations have been described in the literature, but few phenotypic data on monogenic TARDBP-mutated ALS are available. In this paper, (1) we describe the clinical features of ALS patients carrying mutations in the TARDBP gene evaluated at the Tertiary ALS Center at Maggiore della Carità University Hospital, Novara, Italy, from 2010 to 2020 and (2) present the results of our review of the literature on this topic, analyzing data obtained for 267 patients and highlighting their main clinical and demographic features.
摘要：
43kDa反式反应（TAR）-DNA结合蛋白（TARDBP）的突变与2-5％的家族性肌萎缩性侧索硬化症（ALS）病例有关。TARDNA结合蛋白43（TDP-43）是参与几种细胞机制的RNA/DNA结合蛋白（例如，转录,mRNA前处理，和拼接）。许多ALS相关的TARDBP突变已在文献中描述,但是关于单基因TARDBP突变的ALS的表型数据很少。在本文中,（1）我们描述了在MaggioredellaCarità大学医院第三级ALS中心评估的携带TARDBP基因突变的ALS患者的临床特征，诺瓦拉,意大利,从2010年到2020年，(2)介绍了我们对这一主题文献的回顾结果，分析267例患者的数据，并强调他们的主要临床和人口统计学特征。
