Fu Mu-Hui, Chang Yung-Yee
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
J Mov Disord. 2023 May;16(2):115-132. doi: 10.14802/jmd.22127. Epub 2023 Mar 7.
Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.
遗传性脑白质病（GLEs）是一组具有异质性影像学和表型特征的白质异常疾病。尽管这些疾病大多在儿童中被描述，但由于神经影像学的广泛应用和分子基因检测技术的进步，成人发病的病例越来越受到关注。疾病进程通常呈进行性，临床表现多样，这使神经科医生陷入鉴别诊断的困境。运动障碍是最常见的症状之一，其多样性使得诊断具有挑战性。在本综述中，我们聚焦于伴有运动障碍的成人起病型GLEs，并通过阐明运动现象学、建议对后天性病因进行检查、描述每种疾病的临床和影像学线索、强调先进分子检测的局限性以及讨论人工智能的未来应用，提供一种逐步的诊断方法。我们提供了一份总结与不同类型运动障碍相关的脑白质病的列表。除了指导临床医生如何利用现有工具缩小鉴别诊断范围外，本综述的另一个目的是强调在诊断这些疑难疾病中应用先进技术的必然趋势。
