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

The role of colony‐stimulating factor‐1 receptor (CSF‐1R) in macrophage and organismal
development has been extensively studied in mouse. Within the last decade, mutations in …

Microglia, predominant parenchymal resident macrophages in the central nervous system
(CNS), are crucial players in neurodevelopment and CNS homeostasis. In disease …

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

CSF1R-related leukoencephalopathy is an adult-onset leukoencephalopathy with axonal
spheroids and pigmented glia caused by colony stimulating factor 1 receptor (CSF1R) gene …

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 …

Cerebral small vessel diseases (SVD) have been causally correlated with ischemic strokes,
leading to cognitive decline and vascular dementia. Neuroimaging and molecular genetic …

Background Hereditary diffuse leukoencephalopathy with spheroid (HDLS) is an autosomal
dominant white matter disease characterized by adult-onset cognitive impairment …

Microglia dysfunction is implicated in several neurodegenerative disorders, including a rare
microgliopathy; CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and …

Introduction Because adult-onset leukoencephalopathy with axonal spheroids and
pigmented glia (ALSP) is a rare, rapidly progressive, debilitating, and ultimately fatal …