The term leukodystrophy refers to a group of conditions that are inherited and involve the
progressive destruction or loss of previously acquired myelin. 1 The most commonly …

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a
progressive degenerative white matter disorder. ALSP was previously recognized as two …

Objective: Pigmented orthochromatic leukodystrophy (POLD) and hereditary diffuse
leukoencephalopathy with axonal spheroids (HDLS) are rare neurodegenerative disorders …

Objective: To clarify the genetic, clinicopathologic, and neuroimaging characteristics of
patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) with the colony …

Microglia are unique cells in the central nervous system (CNS), being considered a sub-type
of CNS macrophage. These cells monitor nearby micro-regions, having roles that far exceed …

To identify pathogenic variants in 107 Korean patients with sporadic frontotemporal
dementia (FTD), 46 genes related to FTD, amyotrophic lateral sclerosis, and other …

We describe detailed clinical, biochemical, neuroimaging and neuropathological features in
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) …

We report a sporadic case of hereditary diffuse leukoencephalopathy with axonal spheroids
(HDLS) confirmed by biopsy and colony-stimulating factor 1 receptor (CSF1R) sequencing …

The objective of this work is to report on a series of five patients with adult-onset
leukoencephalopathy with neuroaxonal spheroids and pigmented glia (ALSP). ALSP is a …

Objective Mutations in the colony‐stimulating factor 1 receptor gene (CSF1R) were identified
as a cause of adult‐onset inherited leukoencephalopathy. The present study aims at …