Leukodystrophies – i.e. genetic diseases primarily affecting the CNS white matter (WM) – are increasingly recognized in the field of adult neurology. Thanks to greater access to next generation sequencing (NGS) such as gene panels, whole‐exome or whole‐genome sequencing, many rare disorders classically affecting the WM in children are now diagnosed in adults. MRI of the CNS remains a key diagnostic tool for leukodystrophies ¹, including for differential diagnoses with acquired vascular leukoencephalopathies or inflammatory leukoencephalopathies ², e.g. multiple sclerosis (MS).

中文翻译：

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成人低髓鞘性脑白质营养不良

脑白质营养不良——即主要影响中枢神经系统白质 (WM) 的遗传疾病——在成人神经病学领域得到越来越多的认可。由于更容易获得下一代测序 (NGS)，例如基因组、全外显子组或全基因组测序，许多经典影响儿童 WM 的罕见疾病现在在成人中得到诊断。中枢神经系统的 MRI 仍然是脑白质营养不良¹的关键诊断工具，包括与获得性血管性白质脑病或炎性白质脑病^{2 的}鉴别诊断，例如多发性硬化症 (MS)。