Microglia in Health and Diseases: Integrative Hubs of the Central Nervous System (CNS)

A Sierra, VE Miron, RC Paolicelli… - Cold Spring Harbor …, 2024 - cshperspectives.cshlp.org
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.” …

[HTML][HTML] The primary microglial leukodystrophies: a review

I Ferrer - International Journal of Molecular Sciences, 2022 - mdpi.com
Primary microglial leukodystrophy or leukoencephalopathy are disorders in which a genetic
defect linked to microglia causes cerebral white matter damage. Pigmented orthochromatic …

Microglia protect against age-associated brain pathologies

DAD Munro, N Bestard-Cuche, C McQuaid, A Chagnot… - Neuron, 2024 - cell.com
Microglia are brain-resident macrophages that contribute to central nervous system (CNS)
development, maturation, and preservation. Here, we examine the consequences of …

Prophylactic effect of chronic immunosuppression in a mouse model of CSF‐1 receptor‐related leukoencephalopathy

V Chitu, F Biundo, J Oppong‐Asare, Ş Gökhan… - Glia, 2023 - Wiley Online Library
Mutations leading to colony‐stimulating factor‐1 receptor (CSF‐1R) loss‐of‐function or
haploinsufficiency cause CSF1R‐related leukoencephalopathy (CRL), an adult‐onset …

[HTML][HTML] Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes

J Dulski, MG Heckman, LJ White, K Żur-Wyrozumska… - Pharmaceutics, 2022 - mdpi.com
Mutations in the CSF1R gene are the most common cause of adult-onset
leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a …

Protective effect of glucocorticoids against symptomatic disease in CSF1R variant carriers

J Dulski, MG Heckman, JM Nowak… - Movement …, 2023 - Wiley Online Library
Background There is an unmet need for the treatment of colony‐stimulating factor‐1 receptor
(CSF1R)‐related leukoencephalopathy. Objectives To evaluate the association of …

The Phenotypic and Genotypic Spectrum of CSF1R‐Related Disorder in China

J Wu, X Cheng, D Ji, H Niu, S Yao, X Lv… - Movement …, 2024 - Wiley Online Library
Background Colony‐stimulating factor 1 receptor (CSF1R)‐related disorder (CRD) is a rare
autosomal dominant disease. The clinical and genetic characteristics of Chinese patients …

CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology

J Dulski, K Muthusamy, TC Lund, ZK Wszolek - Parkinsonism & Related …, 2023 - Elsevier
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 …

[HTML][HTML] Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP

J Dulski, J Souza, ML Santos, ZK Wszolek - Orphanet Journal of Rare …, 2023 - Springer
CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with
axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain …

[HTML][HTML] An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders

MF Dorion, D Casas, I Shlaifer, M Yaqubi… - Molecular …, 2024 - Springer
Background Induced pluripotent stem cell-derived microglia (iMGL) represent an excellent
tool in studying microglial function in health and disease. Yet, since differentiation and …