脑白质营养不良：基础与临床

Leukodystrophy: Basic and Clinical.

作者信息

Raymond Gerald V

机构信息

Pediatric Neurology, University of Minnesota Medical Center, Minneapolis, MN, 55455, USA.

Department of Neurology, University of Minnesota Medical Center, MMC-295, 516 Delaware St, SE, Minneapolis, MN, 55455, USA.

出版信息

Adv Neurobiol. 2017;15:365-382. doi: 10.1007/978-3-319-57193-5_14.

DOI:10.1007/978-3-319-57193-5_14

PMID:28674989

Abstract

Leukodystrophies are serious, progressive, genetic disorders of CNS myelin. They may result from abnormalities of the oligodendrocyte or any of the other of myriad of supporting cells or tissues. With recent developments in neuroimaging, their presence is becoming increasingly noted even in situations where they were not suspected. More importantly, new genetic tools have improved our ability to diagnose. An understanding of pathogenesis is still evolving, but it is expected that this will assist in developing targeted therapies for these devastating disorders.

摘要

脑白质营养不良是中枢神经系统髓鞘的严重、进行性遗传性疾病。它们可能由少突胶质细胞或众多支持细胞或组织中的任何一种异常引起。随着神经影像学的最新发展，即使在未被怀疑的情况下，它们的存在也越来越受到关注。更重要的是，新的基因检测工具提高了我们的诊断能力。对发病机制的理解仍在不断发展，但预计这将有助于开发针对这些毁灭性疾病的靶向治疗方法。