Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms

MS Van der Knaap, M Bugiani - Acta neuropathologica, 2017 - Springer
Leukodystrophies are genetically determined disorders characterized by the selective
involvement of the central nervous system white matter. Onset may be at any age, from …

Emerging roles for CSF-1 receptor and its ligands in the nervous system

V Chitu, Ş Gokhan, S Nandi, MF Mehler… - Trends in …, 2016 - cell.com
The colony-stimulating factor-1 receptor (CSF-1R) kinase regulates tissue macrophage
homeostasis, osteoclastogenesis, and Paneth cell development. However, recent studies in …

[HTML][HTML] Microglia in Alzheimer's disease: activated, dysfunctional or degenerative

V Navarro, E Sanchez-Mejias, S Jimenez… - Frontiers in aging …, 2018 - frontiersin.org
Microglial activation has been considered a crucial player in the pathological process of
multiple human neurodegenerative diseases. In some of these pathologies, such as …

Microglia gone rogue: impacts on psychiatric disorders across the lifespan

TL Tay, C Béchade, I D'andrea, MK St-Pierre… - Frontiers in molecular …, 2018 - frontiersin.org
Microglia are the predominant immune response cells and professional phagocytes of the
central nervous system (CNS) that have been shown to be important for brain development …

CSF1R-related leukoencephalopathy: A major player in primary microgliopathies

T Konno, K Kasanuki, T Ikeuchi, DW Dickson… - Neurology, 2018 - AAN Enterprises
Since the discovery of CSF1R gene mutations in families with hereditary diffuse
leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been …

Dysregulated phosphoinositide 3-kinase signaling in microglia: shaping chronic neuroinflammation

E Chu, R Mychasiuk, ML Hibbs, BD Semple - Journal of …, 2021 - Springer
Microglia are integral mediators of innate immunity within the mammalian central nervous
system. Typical microglial responses are transient, intending to restore homeostasis by …

Colony-stimulating factor 1 receptor (CSF1R) regulates microglia density and distribution, but not microglia differentiation in vivo

N Oosterhof, LE Kuil, HC van der Linde, SM Burm… - Cell reports, 2018 - cell.com
Microglia are brain-resident macrophages with trophic and phagocytic functions. Dominant
loss-of-function mutations in a key microglia regulator, colony-stimulating factor 1 receptor …

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: review of clinical manifestations as foundations for therapeutic development

S Papapetropoulos, A Pontius, E Finger… - Frontiers in …, 2022 - frontiersin.org
A comprehensive review of published literature was conducted to elucidate the genetics,
neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation …

Microglial dyshomeostasis drives perineuronal net and synaptic loss in a CSF1R+/− mouse model of ALSP, which can be rescued via CSF1R inhibitors

MA Arreola, N Soni, JD Crapser, LA Hohsfield… - Science …, 2021 - science.org
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is an
autosomal dominant neurodegenerative disease caused by mutations in colony-stimulating …

Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation

T Konno, K Yoshida, T Mizuno… - European Journal of …, 2017 - Wiley Online Library
Background and purpose The clinical characteristics of colony stimulating factor 1 receptor
(CSF 1R) related adult‐onset leukoencephalopathy with axonal spheroids and pigmented …