Wider C, Van Gerpen J A, DeArmond S, Shuster E A, Dickson D W, Wszolek Z K
Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
Neurology. 2009 Jun 2;72(22):1953-9. doi: 10.1212/WNL.0b013e3181a826c0.
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD) present as adult-onset dementia with motor impairment and epilepsy. They are regarded as distinct diseases. We review data from the literature that support their being a single entity. Apart from a slightly older age at onset, a more rapid course, and more prominent pyramidal tract involvement, familial POLD is clinically similar to HDLS. Moreover, the pathologic hallmarks of the two diseases, axonal spheroids in HDLS and pigmented macrophages in POLD, can be identified in both conditions. This supports HDLS and POLD being referred collectively as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
伴有轴突 spheroids 的遗传性弥漫性白质脑病（HDLS）和家族性色素性正染性脑白质营养不良（POLD）表现为成人起病的痴呆，伴有运动障碍和癫痫。它们被视为不同的疾病。我们回顾了文献中的数据，这些数据支持它们是单一实体。除了发病年龄稍大、病程进展更快以及锥体束受累更明显外，家族性 POLD 在临床上与 HDLS 相似。此外，这两种疾病的病理特征，即 HDLS 中的轴突 spheroids 和 POLD 中的色素性巨噬细胞，在两种情况下均可识别。这支持将 HDLS 和 POLD 统称为伴有轴突 spheroids 和色素性神经胶质细胞的成人起病性白质脑病（ALSP）。
