Leukodystrophies are a heterogeneous group of rare genetic disorders primarily affecting the white matter of the central nervous system. These conditions can present a diagnostic challenge, requiring a comprehensive approach that combines clinical evaluation, neuroimaging, metabolic testing, and genetic testing. While MRI is the main tool for diagnosis, advances in molecular diagnostics, particularly whole-exome sequencing, have significantly improved the diagnostic yield. Timely and accurate diagnosis is crucial to guide symptomatic treatment and assess eligibility to participate in clinical trials. Despite no specific cure being available for most leukodystrophies, gene therapy is emerging as a potential treatment avenue, rapidly advancing the therapeutic prospects in leukodystrophies. This review will explore diagnostic and therapeutic strategies for leukodystrophies, with particular emphasis on new trials.

脑白质营养不良是一组异质性罕见遗传性疾病，主要影响中枢神经系统的白质。这些情况可能会带来诊断挑战，需要结合临床评估、神经影像学、代谢测试和基因测试的综合方法。虽然 MRI 是诊断的主要工具，但分子诊断的进步，特别是全外显子组测序，显着提高了诊断率。及时、准确的诊断对于指导对症治疗和评估参与临床试验的资格至关重要。尽管大多数脑白质营养不良没有具体的治疗方法，但基因治疗正在成为一种潜在的治疗途径，迅速推进脑白质营养不良的治疗前景。本综述将探讨脑白质营养不良的诊断和治疗策略，特别强调新试验。