低髓鞘化脑白质营养不良的基因研究进展  

Gene research progress of hypomyelinating leukodystrophies

作　　者：庞可心 朱敏[1] 汤健[1] 丁乐[2] Pang Kexin;Zhu Min;Tang Jian;Ding Le(Department of Rehabilitation,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China;Internal Medicine-Neurology,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学附属儿童医院康复医学科,南京210008 [2]南京医科大学附属儿童医院神经内科,南京210008

出　　处：《中华实用儿科临床杂志》2024年第1期69-73,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金(81401864);江苏省科教强卫青年人才(QNRC2016089);江苏省妇幼保健协会科研项目(FYX201907);南京市卫健委一般性课题(YKK19108)。

摘　　要：低髓鞘化脑白质营养不良(HLDs)是一组以中枢神经系统髓鞘形成减少为主要特征的神经退行性疾病, 其临床表现多样, 患者常有精神运动发育迟缓、运动障碍等问题, 部分患者存在癫痫、小头畸形等其他临床表现。目前尚无特异性治疗方案, 大部分患者预后不良。近年来, 随着基因筛查在临床上的广泛应用, 发现了诸多与HLDs相关的致病基因。明确其发病机制和临床表型变得尤为重要。Hypomyelinating leukodystrophies(HLDs)are a group of neurodegenerative diseases characterized by decreased myelination in the central nervous system,with diverse clinical manifestations like psychomotor retardation and dyskinesia.Some HLDs patients have epilepsy,microcephaly and other clinical manifestations.At present,there is no specific treatment of HLDs,and the prognosis is usually poor.At present,with the wide application of gene screening in clinical practice,many pathogenic genes related to HLDs have been found.It is particularly important to clarify the pathogenesis and clinical phenotypic changes of HLDs.

关 键 词：基因 脑白质营养不良 低髓鞘化 神经退行性疾病 研究进展 

分 类 号：R741[医药卫生—神经病学与精神病学]