Congenital Disorders of Glycosylation with Emphasis on Cerebellar Involvement
Congenital Disorders of Glycosylation with Emphasis on Cerebellar Involvement
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DOI：
10.1055/s-0034-1387197
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发表时间：
2014-07-01
影响因子：
2.7
通讯作者：
Jaeken, Jaak
中科院分区：
文献类型：
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作者：
Barone, Rita;Fiumara, Agata;Jaeken, Jaak
先天性糖基化障碍（CDG）是由于蛋白质和脂质糖基化缺陷引起的遗传性疾病。作者介绍了这些影响中枢神经系统的疾病的最新进展，重点是小脑受累。新型CDG的识别率呈指数增长。实际上已知约有76种CDG，不考虑聚糖修饰蛋白的缺陷。绝大多数CDG都有神经系统受累。筛选方法限于血清转铁蛋白等电聚焦（用于唾液酸缺乏的N-糖基化疾病）和血清载脂蛋白C-III等电聚焦（用于核心1粘蛋白型O-糖基化疾病）。全外显子组/基因组测序越来越多地用于CDG-X患者的诊断检查。治疗非常滞后，因为只有一种CDG是有效治疗的（MPI-CDG）。小脑受累是PMM 2-CDG、由肌营养不良症引起的先天性肌营养不良症和SRD 5A 3-CDG的重要特征。在一些ALG 1-CDG、ALG 3-CDG、ALG 9-CDG、ALG 6-CDG、ALG 8-CDG、PIGA-CDG、DPM 1-CDG、DPM 2-CDG、B4 GALT 1-CDG、SLC 35 A2-CDG、COG 1-CDG、COG 5-CDG、COG 7-CDG和COG 8-CDG患者中也有报告。
Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of proteins and lipids. The authors present an update on these disorders affecting the central nervous system with a focus on cerebellar involvement. The rate of identification of novel CDG shows an exponential increase. Some 76 CDG are actually known, not taking into account the defects in glycan-modifying proteins. Neurologic involvement is present in the large majority of CDG. Screening methods are limited to serum transferrin isoelectrofocusing (for N-glycosylation disorders with sialic acid deficiency), and serum apolipoprotein C-III isoelectrofocusing (for core 1 mucin-type O-glycosylation disorders). Whole exome/genome sequencing is increasingly used in the diagnostic workup of patients with CDG-X. Treatment is greatly lagging behind because only one CDG is efficiently treatable (MPI-CDG). Cerebellar involvement is an important feature of PMM2-CDG, the congenital muscular dystrophies due to dystroglycanopathy, and SRD5A3-CDG. It has also been reported in some patients with ALG1-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, ALG8-CDG, PIGA-CDG, DPM1-CDG, DPM2-CDG, B4GALT1-CDG, SLC35A2-CDG, COG1-CDG, COG5-CDG, COG7-CDG, and COG8-CDG.