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Cited by 65Neuroinflammation and Neurodegeneration MechanismsMultiple Sclerosis Research StudiesNeurological Disease Mechanisms and Treatments

Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy

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Han, Jinming, Sarlus, Heela, Wszolek, Zbigniew K., Karrenbauer, Virginija Danylaité, Harris, Robert A.·2020·Acta Neuropathologica Communications
DOI 10.1186/s40478-020-01093-3PMC PMC7720517
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Abstract

CSF1R-related leukoencephalopathy is an adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by colony stimulating factor 1 receptor (CSF1R) gene mutations. The disease has a global distribution and currently has no cure. Individuals with CSF1R-related leukoencephalopathy variably present clinical symptoms including cognitive impairment, progressive neuropsychiatric and motor symptoms. CSF1R is predominantly expressed on microglia within the central nervous system (CNS), and thus CSF1R-related leukoencephalopathy is now classified as a CNS primary microgliopathy. This urgent unmet medical need could potentially be addressed by using microglia-based immunotherapies. With the rapid recent progress in the experimental microglial research field, the replacement of an empty microglial niche following microglial depletion through either conditional genetic approaches or pharmacological therapies (CSF1R inhibitors) is being studied. Furthermore, hematopoietic stem cell transplantation offers an emerging means of exchanging dysfunctional microglia with the aim of reducing brain lesions, relieving clinical symptoms and prolonging the life of patients with CSF1R-related leukoencephalopathy. This review article introduces recent advances in microglial biology and CSF1R-related leukoencephalopathy. Potential therapeutic strategies by replacing microglia in order to improve the quality of life of CSF1R-related leukoencephalopathy patients will be presented.

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  • Microglial replacement or reprogramming may represent a therapeutic strategy for neurodegenerative and neuroinflammatory disease.

    “Several studies have demonstrated that microglial replacement or reprogramming may represent a therapeutic strategy for neurodegenerative and neuroinflammatory disease.”

    From Older adult APOE4 mice exhibit modest immunometabolic adaptation following microglial APOE2 replacement (2027) · cites this paper as Han et al., 2020

    The Introduction sections on microglial replacement report preclinical benefits and propose replacement as a potential treatment for CSF1R-related leukoencephalopathy. They also describe possible effects on neuroinflammation. The passages do not establish microglial reprogramming as a strategy or demonstrate therapeutic benefit across neurodegenerative and neuroinflammatory diseases generally; the paper presents clinical use as a possibility rather than a demonstrated result. Page numbers are unavailable in our copy. (LLM, conf=0.82)

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Cited by

Sorted by citations

Authors
Han, J., Sarlus, H., Wszolek, Z. K., Karrenbauer, V. D., & Harris, R. A.
Affiliations
Karolinska University Hospital (SE)
Corresponding author
  • Han, Jinming
  • Karrenbauer, Virginija Danylaité
ORCID
Venue
Acta Neuropathologica Communications
Publisher
Springer Science and Business Media LLC
Published
2020-12
Volume
8
Issue
1
Pages
217-217
ISSN
2051-5960 (ISSN-L)
DOI
10.1186/s40478-020-01093-3
PMC
PMC7720517
OpenAlex
W3111256989
Cited by
65
References
17
Citations by year
2026: 12 · 2025: 7 · 2024: 13 · 2023: 8 · 2022: 14 · 2021: 10 · 2020: 1
FWCI
0.83
Type
journal article
Language
en
Open access
Licence
Locations
  • Acta Neuropathologica Communications (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • China Scholarship Council
  • the Swedish Medical Research Council
  • Neuroforbundet
  • Alltid Lite Sterkere
  • Hjärnfonden
  • Alzheimerfonden
  • Barncancerfonden
  • The Sol Goldman Charitable Trust
  • the Donald G. and Jodi P. Heeringa Family
  • the Haworth Family Professorship in Neurodegenerative Diseases Fund
  • The Albertson Parkinson's Research Foundation
  • Stockholm County Council
  • Biogen
  • Novartis
  • Merck
  • Karolinska Institute
Topics
  • Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
  • Life Sciences › Neuroscience › Neurology › Neurological Disease Mechanisms and Treatments
Keywords
CSF1R-related leukoencephalopathy, CSF1R mutation, microglial depletion, CSF1R inhibitor, hematopoietic stem cell transplantation, axonal swellings, neurodegeneration
MeSH terms
Humans, Receptor, Macrophage Colony-Stimulating Factor, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Microglia, Leukoencephalopathies, Cell- and Tissue-Based Therapy

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