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Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?Wider C; Van Gerpen JA; DeArmond S; Shuster EA; Dickson DW; Wszolek ZKNeurology 2009[Jun]; 72 (22): 1953-9Hereditary 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).|Age of Onset[MESH]|Axons/*pathology[MESH]|Dementia, Vascular/*pathology/physiopathology[MESH]|Dementia/*pathology/physiopathology[MESH]|Disease Progression[MESH]|Humans[MESH]|Leukodystrophy, Metachromatic/*pathology/physiopathology[MESH]|Macrophages/pathology[MESH]|Neuroglia/pathology[MESH]|Wallerian Degeneration/*pathology/physiopathology[MESH] |
