Department of Pediatric Neurology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland.
Adv Neurobiol. 2023;29:219-253. doi: 10.1007/978-3-031-12390-0_8.
The chapter is devoted to neurological aspects of congenital disorders of glycosylation (CDG). At the beginning, the various types of CDG with neurological presentation of symptoms are summarized. Then, the occurrence of various neurological constellation of abnormalities (for example: epilepsy, brain anomalies on neuroimaging, ataxia, stroke-like episodes, autistic features) in different CDG types are discussed followed by data on possible biomarkers and limited treatment options.
本章专门讨论先天性糖基化障碍(CDG)的神经学方面。首先,总结了具有神经学症状表现的各种类型的 CDG。然后,讨论了不同 CDG 类型中各种神经学异常(例如:癫痫、神经影像学上的脑异常、共济失调、中风样发作、自闭症特征)的发生情况,随后介绍了可能的生物标志物和有限的治疗选择的数据。