A comprehensive review of published literature was conducted to elucidate the genetics,
neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation …

Recent developments in adult-onset leukoencephalopathy with axonal spheroids and
pigmented glia (ALSP) and other disorders due to CSF1R variants led to the emergence of …

Mutations in the CSF1R gene are the most common cause of adult-onset
leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a …

Microglia are usually referred to as “the innate immune cells of the brain,”“the resident
macrophages of the central nervous system”(CNS), or “CNS parenchymal macrophages.” …

Primary microglial leukodystrophy or leukoencephalopathy are disorders in which a genetic
defect linked to microglia causes cerebral white matter damage. Pigmented orthochromatic …

Background There is an unmet need for the treatment of colony‐stimulating factor‐1 receptor
(CSF1R)‐related leukoencephalopathy. Objectives To evaluate the association of …

Adult-onset leukodystrophies though individually rare are not uncommon. This group
includes several disorders with isolated adult presentations, as well as several childhood …

Circulating monocytes are precursors of both tissue macrophages and dendritic cells, and
they can infiltrate the central nervous system (CNS) where they transform into bone marrow …

Colony‐stimulating factor 1 receptor (CSF1R)‐related leukoencephalopathy is a rare but
fatal microgliopathy. The diagnosis is often delayed due to multifaceted symptoms that can …

Inherited white matter disorders (IWMDs) are a phenotypically and genotypically
heterogeneous group of disorders affecting the central nervous system (CNS) with or without …