Since the discovery of CSF1R gene mutations in families with hereditary diffuse
leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been …

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 …

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 …

Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat-containing
protein that uniquely associates with latent transforming growth factor beta-1 (TGF-β1) and …

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 …

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

CSF1R-related leukoencephalopathy, mainly caused by the mutation of the colony
stimulating factor 1 receptor (CSF1R) gene on chromosome 5, is an underestimated …

The spectrum of CSF1R-related disorder ranges from early-onset disease (age< 18 years) to
late-onset disease (age≥ 18 years). Early-onset disease is associated with hypotonia …

Abstract CSF1R-related leukoencephalopathy (CSF1R-L) and AARS2-related
leukoencephalopathy (AARS2-L) were two disease entities sharing similar phenotype and …

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal
dominant disease caused by mutations in the colony stimulating factor 1 receptor (CSF1R) …