The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood. We summarize 20 leukodystrophies with adult presentations, providing information on the underlying genetic mutations and on biochemical assays that aid diagnosis, where available. Definitions, clinical characteristics, age of onset, MRI findings and treatment options are all described, providing a comprehensive overview of the current knowledge of the various adulthood leukodystrophies. We highlight the distinction between adult-onset leukodystrophies and other inherited disorders with white matter involvement, and we propose a diagnostic pathway for timely recognition of adulthood leukodystrophies in a routine clinical setting. In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, hereditary diffuse leukoencephalopathy with axonal spheroids, autosomal dominant adult-onset demyelinating leukodystrophy, adult polyglucosan body disease, and leukoencephalopathy with vanishing white matter. Ultimately, this Review aims to provide helpful suggestions to identify treatable adulthood leukodystrophies at an early stage in the disease course.

脑白质营养不良是一组遗传性白质疾病，具有异质遗传背景、显着的表型变异性和所有年龄段的发病率。本综述重点关注成年期主要流行或原发性发病的脑白质营养不良。我们总结了 20 种成人脑白质营养不良，提供有关潜在基因突变和有助于诊断的生化分析的信息（如果有）。定义、临床特征、发病年龄、MRI 结果和治疗方案都进行了描述，全面概述了各种成人脑白质营养不良的当前知识。我们强调了成人发病的脑白质营养不良和其他累及白质的遗传性疾病之间的区别，我们提出了一种在常规临床环境中及时识别成年脑白质营养不良的诊断途径。此外，我们还提供有关选定的成人发病脑白质营养不良的详细临床信息，包括 X 连锁肾上腺脑白质营养不良、异染性脑白质营养不良、脑腱黄瘤病、遗传性弥漫性白质脑病伴轴突球状体、常染色体显性遗传性成人发病脱髓鞘性白质脑病和成人脑白质营养不良消失的白质。最终，本综述旨在提供有用的建议，以在病程的早期阶段确定可治疗的成年脑白质营养不良。包括 X 连锁肾上腺脑白质营养不良、异染性脑白质营养不良、脑腱黄瘤病、遗传性弥漫性白质脑病伴轴突球状体、常染色体显性成人发病脱髓鞘性脑白质营养不良、成人多葡聚糖体病和白质脑白质病。最终，本综述旨在提供有用的建议，以在病程的早期阶段确定可治疗的成年脑白质营养不良。包括 X 连锁肾上腺脑白质营养不良、异染性脑白质营养不良、脑腱黄瘤病、遗传性弥漫性白质脑病伴轴突球状体、常染色体显性成人发病脱髓鞘性脑白质营养不良、成人多葡聚糖体病和白质脑白质病。最终，本综述旨在提供有用的建议，以在病程的早期阶段确定可治疗的成年脑白质营养不良。