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: ALG13, DOLK, DPAGT1, SLC35A2, ST3GAL3, PIGA, PIGW, ST3GAL5. 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.

中文翻译：

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从神经学角度看先天性糖基化障碍

大多数血浆蛋白，细胞膜蛋白和其他蛋白都是糖蛋白，其糖链连接到多肽聚糖上。糖基化是大多数人类蛋白质翻译后转化的主要元素。由于糖基化过程对于许多不同的生物学过程都是必需的，因此患者表现出多种多样的表型和症状严重性。先天性糖基化疾病（CDG）中最常观察到的神经系统症状是：癫痫，智力残疾，肌病，神经病和中风样发作。在许多CDG亚型中均可观察到癫痫病，尤其是在以下基因突变的情况下：癫痫病存在：ALG13，DOLK，DPAGT1，SLC35A2，ST3GAL3，PIGA，PIGW，ST3GAL5。在大脑神经影像学检查中，经常看到小脑和大脑的萎缩性变化。据报道脑畸形，特别是在肌营养不良性疾病组。尽管世界上CDG患者的数量在增加，并且临床症状中神经症状通常占主导地位，但随着最近更广泛的基因测试的开展，进行的筛查试验（例如转铁蛋白同工型）的数量有计划地减少。综述的目的是对一篇论文中描述的CDG中选定的神经系统症状进行总结。对于在代谢医学领域没有经验的儿科神经科医生来说，这一点尤其重要。这可能有助于促进对这一不断扩大的疾病组的诊断。生化方面，本文重点研究蛋白质糖基化异常。