Paprocka Justyna, Jezela-Stanek Aleksandra, Tylki-Szymańska Anna, Grunewald Stephanie
Department of Pediatric Neurology, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland.
Brain Sci. 2021 Jan 11;11(1):88. doi: 10.3390/brainsci11010088.
Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the post-translational transformation of most human proteins. Since glycosylation processes are necessary for many different biological processes, patients present a diverse spectrum of phenotypes and severity of symptoms. The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: epilepsy, intellectual disability, myopathies, neuropathies and stroke-like episodes. Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations in the following genes: , , , , , , , . On brain neuroimaging, atrophic changes of the cerebellum and cerebrum are frequently seen. Brain malformations particularly in the group of dystroglycanopathies are reported. Despite the growing number of CDG patients in the world and often neurological symptoms dominating in the clinical picture, the number of performed screening tests eg transferrin isoforms is systematically decreasing as broadened genetic testing is recently more favored. The aim of the review is the summary of selected neurological symptoms in CDG described in the literature in one paper. It is especially important for pediatric neurologists not experienced in the field of metabolic medicine. It may help to facilitate the diagnosis of this expanding group of disorders. Biochemically, this paper focuses on protein glycosylation abnormalities.
大多数血浆蛋白、细胞膜蛋白和其他蛋白质都是糖蛋白，其糖链连接在多肽聚糖上。糖基化是大多数人类蛋白质翻译后修饰的主要组成部分。由于糖基化过程对许多不同的生物学过程至关重要，患者会表现出多样的表型和症状严重程度。在先天性糖基化障碍（CDG）中最常观察到的神经症状有：癫痫、智力障碍、肌病、神经病和类中风发作。癫痫在许多CDG亚型中都可见，尤其在以下基因发生突变时出现： ， ， ， ， ， ， ， 。在脑部神经影像学检查中，经常可见小脑和大脑的萎缩性改变。有报道称存在脑畸形，尤其是在糖肌营养不良症组中。尽管全球CDG患者数量不断增加，且临床症状中神经症状往往占主导，但随着最近更倾向于进行更广泛的基因检测，诸如转铁蛋白异构体等筛查试验的执行数量却在系统性减少。本综述的目的是在一篇论文中总结文献中描述的CDG中选定的神经症状。这对在代谢医学领域经验不足的儿科神经科医生尤为重要。它可能有助于促进对这一不断扩大的疾病群体的诊断。从生物化学角度来看，本文重点关注蛋白质糖基化异常。
