Department of Physics and Medical Technology, VU University Medical Center and Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.
Ann Neurol. 2014 Jul;76(1):5-19. doi: 10.1002/ana.24194. Epub 2014 Jun 24.
Hypomyelinating leukodystrophies represent a genetically heterogeneous but clinically overlapping group of heritable disorders. Current management approaches in the care of the patient with a hypomyelinating leukodystrophy include use of serial magnetic resonance imaging (MRI) to establish and monitor hypomyelination, molecular diagnostics to determine a specific etiology, and equally importantly, careful attention to neurologic complications over time. Emerging research in oligodendrocyte biology and neuroradiology with bedside applications may result in the possibility of clinical trials in the near term, yet there are significant gaps in knowledge in disease classification, characterization, and outcome measures in this group of disorders. Here we review the biological background of myelination, the clinical and genetic variability in hypomyelinating leukodystrophies, and the insights that can be obtained from current MRI techniques. In addition, we discuss ongoing research approaches to define potential outcome markers for future clinical trials.
脑白质营养不良是一组遗传异质性但临床表现重叠的遗传性疾病。目前对脑白质营养不良患者的治疗方法包括：使用磁共振成像（MRI）连续监测脑白质脱髓鞘，分子诊断确定特定病因，以及同样重要的是，随着时间的推移，密切注意神经并发症。少突胶质细胞生物学和神经放射学的新兴研究及其床边应用可能会在近期内开展临床试验，但在该疾病组的疾病分类、特征和结果测量方面仍存在重大知识差距。在此，我们回顾了髓鞘形成的生物学背景、脑白质营养不良的临床和遗传变异性，以及当前 MRI 技术可以提供的见解。此外，我们还讨论了正在进行的研究方法，以确定未来临床试验的潜在结果标志物。
